NM_000540.2(RYR1):c.488G>T (p.Arg163Leu) AND not provided

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000119626.1

Allele description

NM_000540.2(RYR1):c.488G>T (p.Arg163Leu)

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.488G>T (p.Arg163Leu)
HGVS:
  • NC_000019.10:g.38444212G>T
  • NG_008866.1:g.15513G>T
  • NM_000540.2:c.488G>T
  • NP_000531.2:p.Arg163Leu
  • LRG_766t1:c.488G>T
  • LRG_766:g.15513G>T
  • LRG_766p1:p.Arg163Leu
  • NC_000019.9:g.38934852G>T
  • P21817:p.Arg163Leu
  • p.(Arg163Leu)
  • r.(?)
  • r.488g>u
Protein change:
R163L
Links:
UniProtKB: P21817#VAR_045697; dbSNP: rs193922753
NCBI 1000 Genomes Browser:
rs193922753
Molecular consequence:
  • NM_000540.2:c.488G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000154533Leiden Muscular Dystrophy (RYR1)no assertion providednot providedunknownnot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Mutations in RYR1 in malignant hyperthermia and central core disease.

Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.

Hum Mutat. 2006 Oct;27(10):977-89. Review.

PubMed [citation]
PMID:
16917943

Details of each submission

From Leiden Muscular Dystrophy (RYR1), SCV000154533.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Aug 30, 2018