VCV000017027.16 - ClinVar

NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)

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.

(10)

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.

Pathogenic

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)

Variation ID: 17027 Accession: VCV000017027.16

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 13q12.11 13: 20189358 (GRCh38) [ NCBI UCSC ] 13: 20763497 (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	Apr 4, 2013	Nov 3, 2024	Oct 4, 2023

HGVS

Nucleotide	Protein	Molecular consequence
NM_004004.6:c.224G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_003995.2:p.Arg75Gln	missense
NC_000013.11:g.20189358C>T
NC_000013.10:g.20763497C>T
NG_008358.1:g.8618G>A
LRG_1350:g.8618G>A
LRG_1350t1:c.224G>A	LRG_1350p1:p.Arg75Gln
	P29033:p.Arg75Gln

... more HGVS ... less HGVS

Protein change

R75Q

Other names

Canonical SPDI

NC_000013.11:20189357:C: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.

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

Trans-Omics for Precision Medicine (TOPMed) 0.00000

The Genome Aggregation Database (gnomAD) 0.00001

Links

ClinGen: CA127030 UniProtKB: P29033#VAR_015936 OMIM: 121011.0026 dbSNP: rs28931593 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.
GJB2		Dosage sensitivity unlikely	No evidence available	GRCh38 GRCh37	572	639

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.
Palmoplantar keratoderma-deafness syndrome	Pathogenic (1)	no assertion criteria provided	Aug 30, 2005	RCV000018554.35
Autosomal dominant nonsyndromic hearing loss 3A	Pathogenic (2)	no assertion criteria provided	Aug 30, 2005	RCV000018555.37
Autosomal recessive nonsyndromic hearing loss 1A	Pathogenic (1)	no assertion criteria provided	Apr 1, 2016	RCV000210858.9
Rare genetic deafness	Pathogenic (1)	criteria provided, single submitter	Aug 28, 2013	RCV000211764.12
not provided	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Oct 4, 2023	RCV000254728.17
Hearing loss, autosomal recessive	Likely pathogenic (1)	no assertion criteria provided	-	RCV001291331.9
Hereditary palmoplantar keratoderma Nonsyndromic genetic hearing loss	Pathogenic (1)	criteria provided, single submitter	Aug 21, 2020	RCV001257038.9
Nonsyndromic Deafness	Pathogenic (1)	no assertion criteria provided	Sep 4, 2024	RCV004771802.1

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.
Pathogenic (Aug 28, 2013)	criteria provided, single submitter (LMM Criteria) Method: clinical testing	Rare genetic deafness (Autosomal dominant inheritance) Affected status: not provided Allele origin: germline	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine Accession: SCV000198162.4 First in ClinVar: Jan 30, 2015 Last updated: Jun 01, 2016	Publications: PubMed (7) PubMed: 12372058‚ 15996214‚ 23451214‚ 20096356‚ 21040787‚ 16059934‚ 15790391 Comment: The Arg75Gln variant in GJB2 has been identified in several individuals with hea ring loss with or without palmoplantar keratoderma, was found to segregate with … (more) The Arg75Gln variant in GJB2 has been identified in several individuals with hea ring loss with or without palmoplantar keratoderma, was found to segregate with disease in over 10 affected relatives, and was determined to have occurred de no vo in at least one individual (Uyguner 2002, Feldmann 2005, Posukh 2005, Piazza 2005, Wu 2011). This variant has not been identified in large population studies . In vitro functional studies indicate the Arg75Gln variant may impact protein f unction and acts in a dominant-negative manner (Piazza 2005, Yum 2010, Zhang 201 1). In summary, this variant meets our criteria to be classified as pathogenic ( http://pcpgm.partners.org/LMM). (less) Number of individuals with the variant: 2
Pathogenic (Aug 21, 2020)	criteria provided, single submitter (ClinGen HL ACMG Specifications v1) Method: clinical testing	Nonsyndromic hearing loss and deafness Hereditary palmoplantar keratoderma (Autosomal dominant inheritance) Affected status: yes Allele origin: germline	INGEBI, INGEBI / CONICET Accession: SCV001433543.1 First in ClinVar: Sep 27, 2020 Last updated: Sep 27, 2020	Publications: PubMed (6) PubMed: 12372058‚ 15790391‚ 15996214‚ 16059934‚ 23451214‚ 2104787 Comment: Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: the c.224G>A, p.Arg75Gln variant is absent from population databases (gnomAD, GO-ESP, 1000 genomes) meeting … (more) Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: the c.224G>A, p.Arg75Gln variant is absent from population databases (gnomAD, GO-ESP, 1000 genomes) meeting PM2 criteria. This variant has been found in 6 families (2 familial cases with dominant hearing loss and palmoplantar keratoderma and 4 families with non-syndromic autosomal dominant hearing loss) and segregated it correctley in all members of the families, meeting PS4_Mod and PP1_Mod (PMID: 12372058, 15790391, 15996214, 16059934,23451214). A previous variant (p.Arg75Trp) has been previously described as causative mutation of syndromic (palmoplantar keratoderma and autosomal dominant hearing loss) and non-syndromic autosomal dominant hearing loss, applying to PM5 rule. Computational evidence predicted the mutation to be damaging to the protein (REVEL= 0.985; PP3). Functional studies in HeLa cells demonstrated that p.Arg75Gln mutant did not present dye transfer (Lucifer Yellow, Neurobiotin and calcein dyes) and showed a dominant effect when it was co-expressed with wtCX26. Besides there was a null electrical coupling (PMID: 15996214, 2104787). In addition to his, it was demonstrated a partial inhibition of neurobiotin when it was co-expressed with wtCX30 applying to PS3_Moderate rule. Therefore, the c.224G>A variant meets criteria to be classified as pathogenic for autosomal dominant non-syndromic hearing loss and syndromic hearing loss (palmoplantar keratoderma and deafness): PM2, PS4_Moderate, PP1_Moderate, PM5, PP3 and PS3_Moderate. (less) Number of individuals with the variant: 1 Clinical Features: Congenital profound bilateral hearing loss (present) Family history: yes Sex: male Ethnicity/Population group: Caucasian Geographic origin: Argentina Tissue: blood Secondary finding: no
Pathogenic (Feb 10, 2023)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV000322429.8 First in ClinVar: Oct 09, 2016 Last updated: Mar 04, 2023	Comment: Published functional studies demonstrate this variant prevents formation of functional channels (Piazza et al., 2005); Not observed at significant frequency in large population cohorts (gnomAD); … (more) Published functional studies demonstrate this variant prevents formation of functional channels (Piazza et al., 2005); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21040787, 20096356, 20815033, 26088551, 20583176, 16059934, 33466560, 23451214, 25393658, 25153233, 29798269, 27316387, 25388846, 24975403, 24945352, 12372058, 29921236, 34599368, 15790391, 33096615, 15996214) (less)
Pathogenic (Oct 04, 2023)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV002247288.3 First in ClinVar: Mar 28, 2022 Last updated: Feb 14, 2024	Publications: PubMed (6) PubMed: 12372058‚ 20815033‚ 24945352‚ 25153233‚ 27316387‚ 21040787 Comment: This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 75 of the GJB2 protein (p.Arg75Gln). … (more) This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 75 of the GJB2 protein (p.Arg75Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant GJB2-related conditions (PMID: 12372058, 20815033, 24945352, 25153233, 27316387). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 17027). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GJB2 protein function. Experimental studies have shown that this missense change affects GJB2 function (PMID: 21040787). For these reasons, this variant has been classified as Pathogenic. (less)
Pathogenic (Aug 30, 2005)	no assertion criteria provided Method: literature only	DEAFNESS, AUTOSOMAL DOMINANT 3A Affected status: not provided Allele origin: germline	OMIM Accession: SCV000038837.1 First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013	Publications: PubMed (3) PubMed: 12372058‚ 16059934‚ 15996214 Comment on evidence: In a 4-generation Turkish family segregating for autosomal dominant deafness and palmoplantar keratoderma (148350), Uyguner et al. (2002) identified a 224G-A transition in the GJB2 … (more) In a 4-generation Turkish family segregating for autosomal dominant deafness and palmoplantar keratoderma (148350), Uyguner et al. (2002) identified a 224G-A transition in the GJB2 gene resulting in an arg75-to-gln (R75Q) mutation. The age of onset and progression of hearing loss were variable among affected family members, but they all had more severe impairment at higher hearing frequencies. Mutation in the same amino acid (R75W; 121011.0011) is associated with profound prelingual hearing loss and palmoplantar keratoderma. Feldmann et al. (2005) reported 2 French families presenting with autosomal dominant hearing loss (DFNA3A; 601544) caused by the R75Q mutation of the GJB2 gene. In 1 family, a mother and son presented with hearing loss with no skin disease. The hearing defect was profound in the child and moderate/severe in his mother. Both were heterozygous for the R75Q mutation. The R75Q mutation was not found in either of the mother's parents. In the second family reported by Feldmann et al. (2005), a father and his 2 daughters presented with a sensorineural hearing loss associated with skin abnormalities. Bilateral mild hearing loss of the father had been diagnosed at age 18 years, and a palmoplantar keratosis had developed during infancy. His elder daughter had a mild bilateral hearing loss detected at age 10 years. In 4 individuals over 3 generations of a Turkish family with autosomal dominant nonsyndromic congenital profound hearing loss, Piazza et al. (2005) identified heterozygosity for the R75Q mutation in the GJB2 gene. Cell transfection and fluorescence imaging, dye transfer experiments, and dual patch-clamp recording showed that the mutant protein completely prevents the formation of functional channels. (less)
Pathogenic (Aug 30, 2005)	no assertion criteria provided Method: literature only	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS Affected status: not provided Allele origin: germline	OMIM Accession: SCV000038836.1 First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013	Publications: PubMed (3) PubMed: 12372058‚ 16059934‚ 15996214 Comment on evidence: In a 4-generation Turkish family segregating for autosomal dominant deafness and palmoplantar keratoderma (148350), Uyguner et al. (2002) identified a 224G-A transition in the GJB2 … (more) In a 4-generation Turkish family segregating for autosomal dominant deafness and palmoplantar keratoderma (148350), Uyguner et al. (2002) identified a 224G-A transition in the GJB2 gene resulting in an arg75-to-gln (R75Q) mutation. The age of onset and progression of hearing loss were variable among affected family members, but they all had more severe impairment at higher hearing frequencies. Mutation in the same amino acid (R75W; 121011.0011) is associated with profound prelingual hearing loss and palmoplantar keratoderma. Feldmann et al. (2005) reported 2 French families presenting with autosomal dominant hearing loss (DFNA3A; 601544) caused by the R75Q mutation of the GJB2 gene. In 1 family, a mother and son presented with hearing loss with no skin disease. The hearing defect was profound in the child and moderate/severe in his mother. Both were heterozygous for the R75Q mutation. The R75Q mutation was not found in either of the mother's parents. In the second family reported by Feldmann et al. (2005), a father and his 2 daughters presented with a sensorineural hearing loss associated with skin abnormalities. Bilateral mild hearing loss of the father had been diagnosed at age 18 years, and a palmoplantar keratosis had developed during infancy. His elder daughter had a mild bilateral hearing loss detected at age 10 years. In 4 individuals over 3 generations of a Turkish family with autosomal dominant nonsyndromic congenital profound hearing loss, Piazza et al. (2005) identified heterozygosity for the R75Q mutation in the GJB2 gene. Cell transfection and fluorescence imaging, dye transfer experiments, and dual patch-clamp recording showed that the mutant protein completely prevents the formation of functional channels. (less)
Likely pathogenic (-)	no assertion criteria provided Method: research	non-syndromic autosomal recessive hearing loss Affected status: yes Allele origin: inherited	University of Washington Center for Mendelian Genomics, University of Washington Accession: SCV001479805.1 First in ClinVar: Feb 20, 2021 Last updated: Feb 20, 2021	Publications: PubMed (1) PubMed: 30303587
Pathogenic (Sep 04, 2024)	no assertion criteria provided (ACMG Guidelines, 2015) Method: clinical testing	Nonsyndromic Deafness Affected status: yes Allele origin: germline	Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals Accession: SCV005382569.1 First in ClinVar: Nov 03, 2024 Last updated: Nov 03, 2024
Pathogenic (Apr 01, 2016)	no assertion criteria provided Method: clinical testing	Autosomal recessive nonsyndromic hearing loss 1A (Autosomal recessive inheritance) Affected status: yes Allele origin: inherited	Institut Pasteur du Maroc Accession: SCV000267102.1 First in ClinVar: Apr 20, 2016 Last updated: Apr 20, 2016	Comment: Pathogenic Clinical Features: Sensorineural hearing loss disorder (present)
not provided (-)	no classification provided Method: literature only	Autosomal dominant nonsyndromic hearing loss 3A Affected status: unknown Allele origin: germline	GeneReviews Accession: SCV000574686.2 First in ClinVar: May 29, 2016 Last updated: Oct 01, 2022	Publications: PubMed (1) PubMed: 16059934 BookShelf: NBK1536 BookShelf: NBK1536

Comment:

The Arg75Gln variant in GJB2 has been identified in several individuals with hea ring loss with or without palmoplantar keratoderma, was found to segregate with disease in over 10 affected relatives, and was determined to have occurred de no vo in at least one individual (Uyguner 2002, Feldmann 2005, Posukh 2005, Piazza 2005, Wu 2011). This variant has not been identified in large population studies . In vitro functional studies indicate the Arg75Gln variant may impact protein f unction and acts in a dominant-negative manner (Piazza 2005, Yum 2010, Zhang 201 1). In summary, this variant meets our criteria to be classified as pathogenic ( http://pcpgm.partners.org/LMM).

Comment:

Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: the c.224G>A, p.Arg75Gln variant is absent from population databases (gnomAD, GO-ESP, 1000 genomes) meeting PM2 criteria. This variant has been found in 6 families (2 familial cases with dominant hearing loss and palmoplantar keratoderma and 4 families with non-syndromic autosomal dominant hearing loss) and segregated it correctley in all members of the families, meeting PS4_Mod and PP1_Mod (PMID: 12372058, 15790391, 15996214, 16059934,23451214). A previous variant (p.Arg75Trp) has been previously described as causative mutation of syndromic (palmoplantar keratoderma and autosomal dominant hearing loss) and non-syndromic autosomal dominant hearing loss, applying to PM5 rule. Computational evidence predicted the mutation to be damaging to the protein (REVEL= 0.985; PP3). Functional studies in HeLa cells demonstrated that p.Arg75Gln mutant did not present dye transfer (Lucifer Yellow, Neurobiotin and calcein dyes) and showed a dominant effect when it was co-expressed with wtCX26. Besides there was a null electrical coupling (PMID: 15996214, 2104787). In addition to his, it was demonstrated a partial inhibition of neurobiotin when it was co-expressed with wtCX30 applying to PS3_Moderate rule. Therefore, the c.224G>A variant meets criteria to be classified as pathogenic for autosomal dominant non-syndromic hearing loss and syndromic hearing loss (palmoplantar keratoderma and deafness): PM2, PS4_Moderate, PP1_Moderate, PM5, PP3 and PS3_Moderate.

Comment:

Published functional studies demonstrate this variant prevents formation of functional channels (Piazza et al., 2005); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21040787, 20096356, 20815033, 26088551, 20583176, 16059934, 33466560, 23451214, 25393658, 25153233, 29798269, 27316387, 25388846, 24975403, 24945352, 12372058, 29921236, 34599368, 15790391, 33096615, 15996214)

Comment:

This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 75 of the GJB2 protein (p.Arg75Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant GJB2-related conditions (PMID: 12372058, 20815033, 24945352, 25153233, 27316387). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 17027). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GJB2 protein function. Experimental studies have shown that this missense change affects GJB2 function (PMID: 21040787). For these reasons, this variant has been classified as Pathogenic.

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:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.	Richard EM	Human mutation	2019	PMID: 30303587
Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).	Bousfiha A	Current research in translational medicine	2016	PMID: 27316387
Nonsyndromic Hearing Loss and Deafness, DFNA3 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.	Adam MP	-	2016	PMID: 20301708
Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.	Sokolov M	Journal of basic and clinical physiology and pharmacology	2014	PMID: 25153233
Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans.	Pang X	PloS one	2014	PMID: 24945352
Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment.	Wu CC	PloS one	2013	PMID: 23451214
Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.	Zhang J	Molecular and cellular neurosciences	2011	PMID: 21040787
R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG.	Iossa S	American journal of medical genetics. Part A	2010	PMID: 20815033
Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.	Yum SW	Neurobiology of disease	2010	PMID: 20096356
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness.	Feldmann D	American journal of medical genetics. Part A	2005	PMID: 16059934
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.	Piazza V	Clinical genetics	2005	PMID: 15996214
First molecular screening of deafness in the Altai Republic population.	Posukh O	BMC medical genetics	2005	PMID: 15790391
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.	Uyguner O	Clinical genetics	2002	PMID: 12372058
Peripheral blood monocytes derived from HIV+ individuals mediate antibody-dependent cellular cytotoxicity (ADCC).	Jewett A	Clinical immunology and immunopathology	1990	PMID: 2104787
click to load more click to collapse

Text-mined citations for rs28931593 ...

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_004004.6(GJB2):c.224G>A (p.Arg75Gln)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs28931593 ...