NM_000069.2(CACNA1S):c.-476G>A AND Thyrotoxic periodic paralysis

Clinical significance:risk factor (Last evaluated: Mar 1, 2004)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000019194.3

Allele description [Variation Report for NM_000069.2(CACNA1S):c.-476G>A]

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

Gene:
CACNA1S:calcium voltage-gated channel subunit alpha1 S [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_000069.2(CACNA1S):c.-476G>A
HGVS:
  • NC_000001.11:g.201112815C>T
  • NG_009816.1:g.4752G>A
  • NM_000069.2:c.-476G>A
  • NC_000001.10:g.201081943C>T
Nucleotide change:
-476G-A (rs2281845)
Links:
OMIM: 114208.0005; dbSNP: rs2281845
NCBI 1000 Genomes Browser:
rs2281845
Molecular consequence:
  • NM_000069.2:c.-476G>A - 2KB upstream variant - [Sequence Ontology: SO:0001636]

Condition(s)

Name:
Thyrotoxic periodic paralysis (TTPP1)
Synonyms:
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
Identifiers:
MedGen: C2749982; Orphanet: 79102; OMIM: 188580

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039482OMIMno assertion criteria providedrisk factor
(Mar 1, 2004)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis.

Kung AW, Lau KS, Fong GC, Chan V.

J Clin Endocrinol Metab. 2004 Mar;89(3):1340-5.

PubMed [citation]
PMID:
15001631

Details of each submission

From OMIM, SCV000039482.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a study of the genetic associations of thyrotoxic periodic paralysis involving southern Chinese men, Kung et al. (2004) sequenced the CACNA1S gene, including the 5-prime promoter region, and identified 3 SNPS that showed significant differences between patients with thyrotoxic periodic paralysis (TTPP1; 188580) compared with controls with Graves disease (275000) or normal controls. One of these was a G/A polymorphism at nucleotide -476 of the 5-prime flanking region (rs2281845). The variant genotype AA was more commonly found in patients with thyrotoxic periodic paralysis (80.0%) than in the normal controls (57.8%) or controls with Graves disease (58.9%). The t test analysis showed significant difference between patients with thyrotoxic periodic paralysis and Graves disease controls versus normal controls, but not between thyrotoxic periodic paralysis patients and Graves disease controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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