NM_000823.3(GHRHR):c.725T>G (p.Phe242Cys) AND Isolated growth hormone deficiency type 1B

Clinical significance:Pathogenic (Last evaluated: Feb 27, 2012)

Review status:(0/4)0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000017363.22

Allele description [Variation Report for NM_000823.3(GHRHR):c.725T>G (p.Phe242Cys)]

NM_000823.3(GHRHR):c.725T>G (p.Phe242Cys)

Gene:
GHRHR:growth hormone releasing hormone receptor [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
7p14.3
Genomic location:
Preferred name:
NM_000823.3(GHRHR):c.725T>G (p.Phe242Cys)
HGVS:
  • NC_000007.14:g.30974112T>G
  • NG_021416.1:g.15092T>G
  • NM_000823.3:c.725T>G
  • NP_000814.2:p.Phe242Cys
  • NC_000007.13:g.31013727T>G
Protein change:
F242C; PHE242CYS
Links:
OMIM: 139191.0004; dbSNP: 121918119
NCBI 1000 Genomes Browser:
rs121918119
Molecular consequence:
  • NM_000823.3:c.725T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Isolated growth hormone deficiency type 1B (IGHD1B)
Synonyms:
IGHD IB
Identifiers:
MedGen: C2748571; Orphanet: 231671; Orphanet: 631; OMIM: 612781
Age of onset:
Neonatal/infancy

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000037635OMIMno assertion criteria providedPathogenic
(Feb 27, 2012)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.

Salvatori R, Fan X, Phillips JA 3rd, Espigares-Martin R, Martin De Lara I, Freeman KL, Plotnick L, Al-Ashwal A, Levine MA.

J Clin Endocrinol Metab. 2001 Jan;86(1):273-9.

PubMed [citation]
PMID:
11232012

Details of each submission

From OMIM, SCV000037635.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 affected members of a family with isolated growth hormone deficiency IB (612781) from the northeastern United States, Salvatori et al. (2001) found compound heterozygosity for a T-to-G transversion at codon 242 of the GHRHR gene that replaced phenylalanine with cysteine (F242C). The mother was heterozygous for the F242C mutation, while the father carried a L144H mutation (139191.0003).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 11, 2015