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NM_206933.2(USH2A):c.14020A>G (p.Arg4674Gly)

Variation ID: Help
2362
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Dec 23, 2010
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_206933.2(USH2A):c.14020A>G (p.Arg4674Gly)

Allele ID:
17401
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
  • Chr1: 215671085 (on Assembly GRCh38)
  • Chr1: 215844427 (on Assembly GRCh37)
Protein change:
R4674G
HGVS:
  • NG_009497.1:g.757312A>G
  • NM_206933.2:c.14020A>G
  • NP_996816.2:p.Arg4674Gly
  • NC_000001.11:g.215671085T>C (GRCh38)
  • NC_000001.10:g.215844427T>C (GRCh37)
  • O75445:p.Arg4674Gly
Links:
NCBI 1000 Genomes Browser:
rs80338904
Molecular consequence:
NM_206933.2:c.14020A>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
(Feb 1, 2007)
no assertion criteria providedliterature onlygermlineOMIMSCV000022616.3
Pathogenic
(Dec 23, 2010)
no assertion criteria providedcurationnot providedGeneReviewsSCV000056185.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Oct 31, 2018