NM_002072.4(GNAQ):c.548G>A (p.Arg183Gln)

Variation ID: Help
50853
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Dec 1, 2014
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_002072.4(GNAQ):c.548G>A (p.Arg183Gln)

Allele ID:
59839
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.2
Genomic location:
  • Chr9: 77797577 (on Assembly GRCh38)
  • Chr9: 80412493 (on Assembly GRCh37)
Protein change:
R183Q
HGVS:
  • NG_027904.2:g.238727G>A
  • NM_002072.4:c.548G>A
  • NP_002063.2:p.Arg183Gln
  • NC_000009.12:g.77797577C>T (GRCh38)
  • NC_000009.11:g.80412493C>T (GRCh37)
  • NM_002072.3:c.548G>A
  • P50148:p.Arg183Gln
Links:
NCBI 1000 Genomes Browser:
rs397514698
Molecular consequence:
NM_002072.4:c.548G>A: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Somatic

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Dec 1, 2014)
no assertion criteria providedliterature onlysomaticOMIMSCV000071610.2
Pathogenic
(Dec 1, 2014)
no assertion criteria providedliterature onlysomaticOMIMSCV000071611.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedsomaticnot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017