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NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp) 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:
RCV000119724.1

Allele description [Variation Report for NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp)]

NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp)

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.7635G>C (p.Glu2545Asp)
HGVS:
  • NC_000019.10:g.38502527G>C
  • NG_008866.1:g.73828G>C
  • NM_000540.3:c.7635G>CMANE SELECT
  • NM_001042723.2:c.7635G>C
  • NP_000531.2:p.Glu2545Asp
  • NP_000531.2:p.Glu2545Asp
  • NP_001036188.1:p.Glu2545Asp
  • LRG_766t1:c.7635G>C
  • LRG_766:g.73828G>C
  • LRG_766p1:p.Glu2545Asp
  • NC_000019.9:g.38993167G>C
  • NM_000540.2:c.7635G>C
  • p.(Glu2545Asp)
  • p.E2545D
Protein change:
E2545D
Links:
dbSNP: rs193922820
NCBI 1000 Genomes Browser:
rs193922820
Molecular consequence:
  • NM_000540.3:c.7635G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7635G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000154631Leiden Muscular Dystrophy (RYR1)
no classification provided
not providedunknownnot provided

PubMed (3)
[See all records that cite these PMIDs]

Help

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

Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.

Ibarra M CA, Wu S, Murayama K, Minami N, Ichihara Y, Kikuchi H, Noguchi S, Hayashi YK, Ochiai R, Nishino I.

Anesthesiology. 2006 Jun;104(6):1146-54.

PubMed [citation]
PMID:
16732084
See all PubMed Citations (3)

Details of each submission

From Leiden Muscular Dystrophy (RYR1), SCV000154631.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024