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NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln) AND Isolated growth hormone deficiency type IB

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 22, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000148941.1

Allele description [Variation Report for NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)]

NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)

Gene:
GHRHR:growth hormone releasing hormone receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p14.3
Genomic location:
Preferred name:
NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)
HGVS:
  • NC_000007.14:g.30969879G>A
  • NG_021416.1:g.10859G>A
  • NM_000823.4:c.281G>AMANE SELECT
  • NP_000814.2:p.Arg94Gln
  • NC_000007.13:g.31009494G>A
  • c.329G>A/p.R94Q
Protein change:
R94Q
Links:
dbSNP: rs200848306
NCBI 1000 Genomes Browser:
rs200848306
Molecular consequence:
  • NM_000823.4:c.281G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Isolated growth hormone deficiency type IB (IGHD1B)
Synonyms:
IGHD IB; Isolated growth hormone deficiency type 1B; IGHD 1B
Identifiers:
MONDO: MONDO:0013006; MedGen: C2748571; Orphanet: 631; OMIM: 612781

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000191979Endocrinology Clinic, Seth G.S. Medical College
no assertion criteria provided
Likely pathogenic
(Apr 22, 2013) 		inheritedcase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes21not providednot providedyescase-control

Details of each submission

From Endocrinology Clinic, Seth G.S. Medical College, SCV000191979.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providedyescase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providedbloodnot provided4not provided1not provided

Last Updated: Aug 4, 2024