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NM_000069.2(CACNA1S):c.-476G>A

Variation ID: Help
17627
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
Mar 1, 2004
Number of submission(s):
1
Condition(s):
Thyrotoxic periodic paralysis[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000069.2(CACNA1S):c.-476G>A

Allele ID:
32666
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
  • Chr1: 201112815 (on Assembly GRCh38)
  • Chr1: 201081943 (on Assembly GRCh37)
Other names:
  • -476G-A (rs2281845)
HGVS:
  • NG_009816.1:g.4752G>A
  • NM_000069.2:c.-476G>A
  • NC_000001.11:g.201112815C>T (GRCh38)
  • NC_000001.10:g.201081943C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs2281845
Molecular consequence:
NM_000069.2:c.-476G>A: 2KB upstream variant [Sequence Ontology SO:0001636]
Allele frequency:
  • 1000 Genomes Project 0.41114 (C)
  • 1000 Genomes Project 0.58886
  • The Genome Aggregation Database (gnomAD) 0.50828
  • Trans-Omics for Precision Medicine (TOPMed) 0.52347

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

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
(Mar 1, 2004)
no assertion criteria providedliterature onlygermlineOMIMSCV000039482.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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