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NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000119535.1

Allele description [Variation Report for NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys)]

NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys)
HGVS:
  • NC_000019.10:g.38580449A>G
  • NG_008866.1:g.151750A>G
  • NM_000540.3:c.14591A>GMANE SELECT
  • NM_001042723.2:c.14576A>G
  • NP_000531.2:p.Tyr4864Cys
  • NP_000531.2:p.Tyr4864Cys
  • NP_001036188.1:p.Tyr4859Cys
  • LRG_766t1:c.14591A>G
  • LRG_766:g.151750A>G
  • LRG_766p1:p.Tyr4864Cys
  • NC_000019.9:g.39071089A>G
  • NM_000540.2:c.14591A>G
  • P21817:p.Tyr4864Cys
  • p.(Tyr4864Cys)
  • p.Y4864C
Protein change:
Y4859C
Links:
UniProtKB: P21817#VAR_045765; UniProtKB/Swiss-Prot: VAR_045765; dbSNP: rs118192146
NCBI 1000 Genomes Browser:
rs118192146
Molecular consequence:
  • NM_000540.3:c.14591A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.14576A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000154442Leiden Muscular Dystrophy (RYR1)
no classification provided
not providedunknownnot provided

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

Help

Summary from all submissions

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

Citations

PubMed

Central core disease: clinical, pathological, and genetic features.

Quinlivan RM, Muller CR, Davis M, Laing NG, Evans GA, Dwyer J, Dove J, Roberts AP, Sewry CA.

Arch Dis Child. 2003 Dec;88(12):1051-5.

PubMed [citation]
PMID:
14670767
PMCID:
PMC1719384

Details of each submission

From Leiden Muscular Dystrophy (RYR1), SCV000154442.1

#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 5, 2023