NM_005502.3(ABCA1):c.5038C>T (p.Arg1680Trp)

Variation ID: Help
9500
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 1, 2002
Number of submission(s):
1
Condition(s):
Tangier disease, variant
See supporting ClinVar records

Allele(s) Help

NM_005502.3(ABCA1):c.5038C>T (p.Arg1680Trp)

Allele ID:
24539
Variant type:
single nucleotide variant
Cytogenetic location:
9q31
Genomic location:
  • Chr9: 104798504 (on Assembly GRCh38)
  • Chr9: 107560785 (on Assembly GRCh37)
Protein change:
R1680W
HGVS:
  • NG_007981.1:g.134652C>T
  • NM_005502.3:c.5038C>T
  • NP_005493.2:p.Arg1680Trp
  • NC_000009.12:g.104798504G>A (GRCh38)
  • NC_000009.11:g.107560785G>A (GRCh37)
  • O95477:p.Arg1680Trp
Links:
NCBI 1000 Genomes Browser:
rs137854498
Molecular consequence:
NM_005502.3:c.5038C>T: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

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
(Jan 1, 2002)
no assertion criteria providedliterature only
  • Tangier disease, variant
germlineOMIMSCV000030329.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Aug 23, 2017