VCV000008349.31 - ClinVar

NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(17)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Benign

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)

Variation ID: 8349 Accession: VCV000008349.31

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 3q21.1 3: 122284910 (GRCh38) [ NCBI UCSC ] 3: 122003757 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Jun 28, 2015	Sep 29, 2024	Feb 1, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_000388.4:c.2956G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000379.3:p.Ala986Ser	missense
NM_001178065.2:c.2986G>T	NP_001171536.2:p.Ala996Ser	missense
NC_000003.12:g.122284910G>T
NC_000003.11:g.122003757G>T
NG_009058.2:g.106243G>T
	NP_000379.2:p.Ala986Ser

... more HGVS ... less HGVS

Protein change

A986S, A996S

Other names

Canonical SPDI

NC_000003.12:122284909:G:T

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

0.09425 (T)

Allele frequency Help The frequency of the allele represented by this VCV record.

1000 Genomes Project 30x 0.09135

1000 Genomes Project 0.09425

Trans-Omics for Precision Medicine (TOPMed) 0.10436

The Genome Aggregation Database (gnomAD) 0.10682

Exome Aggregation Consortium (ExAC) 0.12693

The Genome Aggregation Database (gnomAD), exomes 0.12850

Links

ClinGen: CA119531 OMIM: 601199.0040 dbSNP: rs1801725 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
CASR		No evidence available	No evidence available	GRCh38 GRCh37	2735	2758

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Serum calcium level	association (1)	no assertion criteria provided	Jul 25, 2018	RCV000008854.13
not specified	Benign (8)	criteria provided, multiple submitters, no conflicts	Dec 21, 2017	RCV000152933.30
Neonatal severe primary hyperparathyroidism	Benign (1)	criteria provided, single submitter	Apr 27, 2017	RCV000299158.13
Autosomal dominant hypocalcemia 1	Benign (1)	criteria provided, single submitter	Apr 27, 2017	RCV000356249.13
Familial hypocalciuric hypercalcemia 1	Benign (1)	criteria provided, single submitter	Apr 27, 2017	RCV000343555.13
Familial hypoparathyroidism	Benign (1)	criteria provided, single submitter	Apr 27, 2017	RCV000405678.13
Malignant tumor of breast	Benign (1)	no assertion criteria provided	-	RCV001269361.9
Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Benign (1)	criteria provided, single submitter	Feb 1, 2024	RCV001510800.15
Nephrolithiasis/nephrocalcinosis	Benign (1)	criteria provided, single submitter	Aug 30, 2018	RCV004018599.1
not provided	Benign (1)	criteria provided, single submitter	-	RCV004715641.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Benign (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	NOT SPECIFIED Affected status: unknown Allele origin: germline	PreventionGenetics, part of Exact Sciences Accession: SCV000306963.1 First in ClinVar: Jun 28, 2015 Last updated: Jun 28, 2015
Benign (Apr 07, 2014)	criteria provided, single submitter (EGL Classification Definitions 2015) Method: clinical testing	not specified Affected status: unknown Allele origin: germline	Eurofins Ntd Llc (ga) Accession: SCV000202363.7 First in ClinVar: Jan 29, 2015 Last updated: Apr 09, 2018	Other databases http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CASR Number of individuals with the variant: 2 Sex: mixed
Benign (Jun 05, 2017)	criteria provided, single submitter (LMM Criteria) Method: clinical testing	not specified Affected status: not provided Allele origin: germline	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine Accession: SCV000711769.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018	Publications: PubMed (3) PubMed: 26107257‚ 25705702‚ 20602573 Comment: p.Ala996Ser in exon 7 of CASR: This variant is not expected to have clinical sig nificance because it has been identified in 19.5% (3223/16508) of … (more) p.Ala996Ser in exon 7 of CASR: This variant is not expected to have clinical sig nificance because it has been identified in 19.5% (3223/16508) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs1801725). (less) Number of individuals with the variant: 1
Benign (Feb 01, 2024)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Explanation for multiple conditions: Uncertain. The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases. Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV001717931.4 First in ClinVar: Jun 15, 2021 Last updated: Feb 28, 2024
Benign (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: not provided	not provided (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Breakthrough Genomics, Breakthrough Genomics Accession: SCV005303517.1 First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024
Benign (Jul 17, 2017)	criteria provided, single submitter (Athena Diagnostics Criteria) Method: clinical testing	not specified Affected status: unknown Allele origin: germline	Athena Diagnostics Accession: SCV000612667.1 First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017	Publications: PubMed (27) PubMed: 10023897‚ 10217111‚ 10912749‚ 11161843‚ 11248745‚ 11580999‚ 11733622‚ 12018449‚ 12040821‚ 12052452‚ 12239240‚ 12574201‚ 14508624‚ 14997007‚ 15531522‚ 15864123‚ 16497624‚ 17018660‚ 17117288‚ 17309124‚ 17320849‚ 17332735‚ 17555508‚ 17698911‚ 18328986‚ 18680227‚ 8636323
Benign (Dec 21, 2017)	criteria provided, single submitter (GeneDx Variant Classification (06012015)) Method: clinical testing	not specified Affected status: yes Allele origin: germline	GeneDx Accession: SCV000512484.4 First in ClinVar: Mar 08, 2017 Last updated: Apr 09, 2018	Comment: This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more) This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
Benign (Apr 27, 2017)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Autosomal dominant hypocalcemia 1 Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000440142.3 First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020	Comment: This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more) This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. (less)
Benign (Apr 27, 2017)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Neonatal severe primary hyperparathyroidism Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000440141.3 First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020	Comment: This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more) This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. (less)
Benign (Apr 27, 2017)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Familial isolated hypoparathyroidism Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000440140.3 First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020	Comment: This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more) This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. (less)
Benign (Apr 27, 2017)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Familial hypocalciuric hypercalcemia 1 Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000440139.3 First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020	Publications: PubMed (3) PubMed: 19694204‚ 22024717‚ 11161843 Comment: This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more) This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. (less)
Benign (Aug 30, 2018)	criteria provided, single submitter (Ambry Variant Classification Scheme 2023) Method: clinical testing	Nephrolithiasis/nephrocalcinosis Affected status: unknown Allele origin: germline	Ambry Genetics Accession: SCV001178781.4 First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024	Comment: This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more) This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
association (Jul 25, 2018)	no assertion criteria provided Method: literature only	CASR POLYMORPHISM Affected status: not provided Allele origin: germline	OMIM Accession: SCV000029064.3 First in ClinVar: Apr 04, 2013 Last updated: Jul 28, 2018	Publications: PubMed (3) PubMed: 10023897‚ 11161843‚ 15531522 Comment on evidence: In female North American cohorts, Cole et al. (1999) and Cole et al. (2001) described an association between serum ionized calcium and a common polymorphism, … (more) In female North American cohorts, Cole et al. (1999) and Cole et al. (2001) described an association between serum ionized calcium and a common polymorphism, ala986 to ser (A986S), in the cytoplasmic tail of the calcium-sensing receptor. Scillitani et al. (2004) confirmed the association in 377 healthy Italian Caucasian adults (184 men and 193 women). Their results also suggested that 2 neighboring exon 7 polymorphisms were predictive as well. Relative frequency for the minor 986S allele was 24%. Subjects with the AA genotype had significantly lower serum ionized calcium (P = 0.0001) than subjects with 1 or 2 S alleles. (less)
Benign (-)	no assertion criteria provided Method: clinical testing	Breast Cancer Affected status: yes Allele origin: germline	Center of Medical Genetics and Primary Health Care Accession: SCV001448712.1 First in ClinVar: Dec 07, 2020 Last updated: Dec 07, 2020
Benign (-)	no assertion criteria provided Method: clinical testing	not specified Affected status: yes Allele origin: germline	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001743934.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021
Benign (-)	no assertion criteria provided Method: clinical testing	not specified Affected status: yes Allele origin: germline	Genome Diagnostics Laboratory, University Medical Center Utrecht Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001929713.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021
Benign (-)	no assertion criteria provided Method: clinical testing	not specified Affected status: yes Allele origin: germline	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001954516.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021
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Comment:

p.Ala996Ser in exon 7 of CASR: This variant is not expected to have clinical sig nificance because it has been identified in 19.5% (3223/16508) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs1801725).

Comment:

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

Comment:

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

Comment:

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

Comment:

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Comment:

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India.	Guha M	PloS one	2015	PMID: 26107257
The G allele of CaSR R990G polymorphism increases susceptibility to urolithiasis and hypercalciuria: evidences from a comprehensive meta-analysis.	Liu K	BioMed research international	2015	PMID: 25705702
Effects of the calcium-sensing receptor A986S polymorphism on serum calcium and parathyroid hormone levels in healthy individuals: a meta-analysis.	He Y	Gene	2012	PMID: 22024717
Association between calcium-sensing receptor gene polymorphisms and recurrent calcium kidney stone disease: a comprehensive gene analysis.	Shakhssalim N	Scandinavian journal of urology and nephrology	2010	PMID: 20602573
Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor.	Jack MM	Journal of pediatric endocrinology & metabolism : JPEM	2009	PMID: 19694204
Association between calcium sensing receptor gene polymorphisms and chronic pancreatitis in a US population: role of serine protease inhibitor Kazal 1type and alcohol.	Muddana V	World journal of gastroenterology	2008	PMID: 18680227
Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations.	Egbuna OI	Best practice & research. Clinical rheumatology	2008	PMID: 18328986
Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.	Nissen PH	The Journal of clinical endocrinology and metabolism	2007	PMID: 17698911
Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.	Tõke J	Clinical endocrinology	2007	PMID: 17555508
R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria.	Vezzoli G	Kidney international	2007	PMID: 17332735
Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics.	Yun FH	Clinical biochemistry	2007	PMID: 17320849
Interaction between birthweight and polymorphism in the calcium-sensing receptor gene in determination of adult bone mass: the Hertfordshire cohort study.	Lips MA	The Journal of rheumatology	2007	PMID: 17309124
Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor.	Scillitani A	The Journal of clinical endocrinology and metabolism	2007	PMID: 17018660
The calcium-sensing receptor and related diseases.	D'Souza-Li L	Arquivos brasileiros de endocrinologia e metabologia	2006	PMID: 17117288
Mutations in the calcium-sensing receptor: a new genetic risk factor for chronic pancreatitis?	Felderbauer P	Scandinavian journal of gastroenterology	2006	PMID: 16497624
Calcium-sensing receptor gene polymorphism Arg990Gly and its possible effect on response to cinacalcet HCl.	Rothe HM	Pharmacogenetics and genomics	2005	PMID: 15864123
Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor.	Scillitani A	The Journal of clinical endocrinology and metabolism	2004	PMID: 15531522
Vitamin D receptor, oestrogen receptor-alpha and calcium-sensing receptor genotypes, bone mineral density and biochemical markers in Paget's disease of bone.	Donáth J	Rheumatology (Oxford, England)	2004	PMID: 14997007
Calcium-sensing receptor gene polymorphism A986S does not predict serum calcium level, bone mineral density, calcaneal ultrasound indices, or fracture rate in a large cohort of elderly women.	Bollerslev J	Calcified tissue international	2004	PMID: 14508624
Calcium sensing receptor gene A986S polymorphism and responsiveness to calcium supplementation in postmenopausal women.	Young R	The Journal of clinical endocrinology and metabolism	2003	PMID: 12574201
Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients.	Vezzoli G	Journal of the American Society of Nephrology : JASN	2002	PMID: 12239240
Lack of association between calcium-sensing receptor gene "A986S" polymorphism and bone mineral density in Hungarian postmenopausal women.	Takács I	Bone	2002	PMID: 12052452
Vitamin D and calcium-sensing receptor genotypes in men and premenopausal women with low bone mineral density.	Eckstein M	The Israel Medical Association journal : IMAJ	2002	PMID: 12040821
Calcium-sensing receptor A986S polymorphism in human rectal cancer.	Speer G	International journal of colorectal disease	2002	PMID: 12018449
No evidence for point mutations of the calcium-sensing receptor in familial idiopathic hypercalciuria.	Lerolle N	Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association	2001	PMID: 11733622
Frequency of the calcium-sensing receptor variant A986S in patients with primary hyperparathyroidism.	Miedlich S	European journal of endocrinology	2001	PMID: 11580999
Calcium sensing receptor gene polymorphism, circulating calcium concentrations and bone mineral density in healthy adolescent girls.	Lorentzon M	European journal of endocrinology	2001	PMID: 11248745
Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene.	Cole DE	Molecular genetics and metabolism	2001	PMID: 11161843
Molecular variations in the calcium-sensing receptor in relation to sodium balance and presence of hypertension in blacks and whites.	Pratt JH	American journal of hypertension	2000	PMID: 10912749
A986S polymorphism of calcium-sensing receptor.	Kanazawa H	Lancet (London, England)	1999	PMID: 10217111
A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations.	Cole DE	Lancet (London, England)	1999	PMID: 10023897
Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.	Heath H 3rd	The Journal of clinical endocrinology and metabolism	1996	PMID: 8636323
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CASR	-	-	-	-
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Text-mined citations for rs1801725 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 25, 2024

ClinVar Genomic variation as it relates to human health

NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs1801725 ...