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NM_000540.3(RYR1):c.7317G>C (p.Glu2439Asp) 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:
RCV000119702.1

Allele description [Variation Report for NM_000540.3(RYR1):c.7317G>C (p.Glu2439Asp)]

NM_000540.3(RYR1):c.7317G>C (p.Glu2439Asp)

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.7317G>C (p.Glu2439Asp)
Other names:
NM_000540.2(RYR1):c.7317G>C; p.Glu2439Asp
HGVS:
  • NC_000019.10:g.38500010G>C
  • NG_008866.1:g.71311G>C
  • NM_000540.3:c.7317G>CMANE SELECT
  • NM_001042723.2:c.7317G>C
  • NP_000531.2:p.Glu2439Asp
  • NP_000531.2:p.Glu2439Asp
  • NP_001036188.1:p.Glu2439Asp
  • LRG_766t1:c.7317G>C
  • LRG_766:g.71311G>C
  • LRG_766p1:p.Glu2439Asp
  • NC_000019.9:g.38990650G>C
  • NM_000540.2:c.7317G>C
  • p.(Glu2439Asp)
Protein change:
E2439D
Links:
dbSNP: rs193922813
NCBI 1000 Genomes Browser:
rs193922813
Molecular consequence:
  • NM_000540.3:c.7317G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7317G>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
SCV000154609Leiden 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

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

Galli L, Orrico A, Lorenzini S, Censini S, Falciani M, Covacci A, Tegazzin V, Sorrentino V.

Hum Mutat. 2006 Aug;27(8):830.

PubMed [citation]
PMID:
16835904

Details of each submission

From Leiden Muscular Dystrophy (RYR1), SCV000154609.1

#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: Mar 30, 2024