NM_020975.6(RET):c.938G>A (p.Arg313Gln) AND Hirschsprung disease 1

Clinical significance:risk factor (Last evaluated: Jan 1, 1997)

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:
RCV000014957.4

Allele description [Variation Report for NM_020975.6(RET):c.938G>A (p.Arg313Gln)]

NM_020975.6(RET):c.938G>A (p.Arg313Gln)

Gene:
RET:ret proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.21
Genomic location:
Preferred name:
NM_020975.6(RET):c.938G>A (p.Arg313Gln)
HGVS:
  • NC_000010.11:g.43106446G>A
  • NG_007489.1:g.34378G>A
  • NM_001355216.1:c.176G>A
  • NM_020630.6:c.938G>A
  • NM_020975.6:c.938G>AMANE SELECT
  • NP_001342145.1:p.Arg59Gln
  • NP_065681.1:p.Arg313Gln
  • NP_066124.1:p.Arg313Gln
  • LRG_518t1:c.938G>A
  • LRG_518:g.34378G>A
  • NC_000010.10:g.43601894G>A
  • NM_020975.4:c.938G>A
  • P07949:p.Arg313Gln
Protein change:
R313Q; ARG313GLN
Links:
UniProtKB: P07949#VAR_009465; OMIM: 164761.0028; dbSNP: rs77702891
NCBI 1000 Genomes Browser:
rs77702891
Molecular consequence:
  • NM_001355216.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.6:c.938G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.938G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hirschsprung disease 1 (HSCR1)
Synonyms:
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR 1; RET-Related Hirschsprung Disease
Identifiers:
MONDO: MONDO:0007723; MedGen: C3888239; Orphanet: 388; OMIM: 142623

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035213OMIMno assertion criteria providedrisk factor
(Jan 1, 1997)
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

Frequency of RET mutations in long- and short-segment Hirschsprung disease.

Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi R, Pasini B, Ceccherini I, Lerone M, Kristoffersson U, Larsson LT, Casasa JM, Cass DT, Abramowicz MJ, Vanderwinden JM, Kravcenkiene I, Baric I, Silengo M, Martucciello G, Romeo G.

Hum Mutat. 1997;9(3):243-9.

PubMed [citation]
PMID:
9090527

Details of each submission

From OMIM, SCV000035213.3

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

Description

In a child born of consanguineous parents, Seri et al. (1997) found homozygosity for an R313Q mutation of the RET gene as the cause of the most severe Hirschsprung disease (142623) phenotype, namely, total colonic aganglionosis with small bowel involvement.

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

Last Updated: Nov 20, 2021

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