NM_000069.2(CACNA1S):c.1582C>G (p.Arg528Gly) AND Hypokalemic periodic paralysis 1

Clinical significance:Pathogenic (Last evaluated: Apr 28, 2009)

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:
RCV000020093.1

Allele description [Variation Report for NM_000069.2(CACNA1S):c.1582C>G (p.Arg528Gly)]

NM_000069.2(CACNA1S):c.1582C>G (p.Arg528Gly)

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.1582C>G (p.Arg528Gly)
HGVS:
  • NC_000001.11:g.201077916G>C
  • NG_009816.1:g.39651C>G
  • NM_000069.2:c.1582C>G
  • NP_000060.2:p.Arg528Gly
  • NC_000001.10:g.201047044G>C
  • Q13698:p.Arg528Gly
Protein change:
R528G
Links:
UniProtKB: Q13698#VAR_054953; dbSNP: 80338778
NCBI 1000 Genomes Browser:
rs80338778
Molecular consequence:
  • NM_000069.2:c.1582C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypokalemic periodic paralysis 1 (HOKPP1)
Synonyms:
Hyperkalemic Periodic Paralysis Type 1
Identifiers:
MedGen: C3714580; Orphanet: 681; OMIM: 170400
Age of onset:
Childhood
Prevalence:
1-9 / 100 000 681

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000040406GeneReviewsno assertion criteria providedpathologic
(Apr 28, 2009)
not providedcuration

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000040406.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: May 10, 2017