NM_173353.3(TPH2):c.1322G>A (p.Arg441His)

Variation ID: Help
3162
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
May 1, 2009
Number of submission(s):
1
Condition(s):
Unipolar depression, susceptibility to
See supporting ClinVar records

Allele(s) Help

NM_173353.3(TPH2):c.1322G>A (p.Arg441His)

Allele ID:
18201
Variant type:
single nucleotide variant
Cytogenetic location:
12q21.1
Genomic location:
  • Chr12: 72031544 (on Assembly GRCh38)
  • Chr12: 72425324 (on Assembly GRCh37)
Protein change:
R441H
HGVS:
  • NG_008279.1:g.97699G>A
  • NM_173353.3:c.1322G>A
  • NP_775489.2:p.Arg441His
  • NC_000012.12:g.72031544G>A (GRCh38)
  • NC_000012.11:g.72425324G>A (GRCh37)
  • Q8IWU9:p.Arg441His
Links:
NCBI 1000 Genomes Browser:
rs120074175
Molecular consequence:
NM_173353.3:c.1322G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00001 (A)

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
risk factor
(May 1, 2009)
no assertion criteria providedliterature only
  • Unipolar depression, susceptibility to
germlineOMIMSCV000023470.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Aug 23, 2017