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NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys)

Variation ID: Help
3266
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 1, 2002
Number of submission(s):
1
Condition(s):
ACTH resistance[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys)

Allele ID:
18305
Variant type:
single nucleotide variant
Cytogenetic location:
18p11.2
Genomic location:
  • Chr18: 13884758 (on Assembly GRCh38)
  • Chr18: 13884757 (on Assembly GRCh37)
Protein change:
Y254C
HGVS:
  • NG_011819.1:g.35779A>G
  • NM_000529.2:c.761A>G
  • NP_000520.1:p.Tyr254Cys
  • NC_000018.10:g.13884758T>C (GRCh38)
  • NC_000018.9:g.13884757T>C (GRCh37)
  • Q01718:p.Tyr254Cys
Links:
NCBI 1000 Genomes Browser:
rs28940892
Molecular consequence:
NM_000529.2:c.761A>G: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Sep 1, 2002)
no assertion criteria providedliterature onlygermlineOMIMSCV000023580.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jul 21, 2018

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