NM_000540.2(RYR1):c.14537C>T (p.Ala4846Val) AND Central core disease

Clinical significance:Pathogenic (Last evaluated: May 11, 2010)

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:
RCV000056172.1

Allele description

NM_000540.2(RYR1):c.14537C>T (p.Ala4846Val)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.2(RYR1):c.14537C>T (p.Ala4846Val)
HGVS:
  • NC_000019.10:g.38580395C>T
  • NG_008866.1:g.151696C>T
  • NM_000540.2:c.14537C>T
  • NP_000531.2:p.Ala4846Val
  • LRG_766t1:c.14537C>T
  • LRG_766:g.151696C>T
  • LRG_766p1:p.Ala4846Val
  • NC_000019.9:g.39071035C>T
  • P21817:p.Ala4846Val
  • p.(Ala4846Val)
  • p.A4846V
  • r.(?)
Protein change:
A4846V
Links:
UniProtKB: P21817#VAR_045759; dbSNP: rs118192143
NCBI 1000 Genomes Browser:
rs118192143
Molecular consequence:
  • NM_000540.2:c.14537C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Central core disease (CCD)
Synonyms:
Myopathy, Central Core
Identifiers:
MedGen: C0751951; Orphanet: 597; OMIM: 117000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000087260GeneReviewsno assertion criteria providedpathologic
(May 11, 2010)
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, SCV000087260.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: May 11, 2018