U.S. flag

An official website of the United States government

NM_000540.3(RYR1):c.7648C>G (p.Leu2550Val) 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:
RCV000119725.1

Allele description [Variation Report for NM_000540.3(RYR1):c.7648C>G (p.Leu2550Val)]

NM_000540.3(RYR1):c.7648C>G (p.Leu2550Val)

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.7648C>G (p.Leu2550Val)
HGVS:
  • NC_000019.10:g.38502540C>G
  • NG_008866.1:g.73841C>G
  • NM_000540.3:c.7648C>GMANE SELECT
  • NM_001042723.2:c.7648C>G
  • NP_000531.2:p.Leu2550Val
  • NP_000531.2:p.Leu2550Val
  • NP_001036188.1:p.Leu2550Val
  • LRG_766t1:c.7648C>G
  • LRG_766:g.73841C>G
  • LRG_766p1:p.Leu2550Val
  • NC_000019.9:g.38993180C>G
  • NM_000540.2:c.7648C>G
  • P21817:p.Leu2550Val
  • p.(Val2550Leu)
  • NP_000531.2:p.Val2550Leu
Protein change:
L2550V
Links:
UniProtKB: P21817#VAR_058570; dbSNP: rs193922821
NCBI 1000 Genomes Browser:
rs193922821
Molecular consequence:
  • NM_000540.3:c.7648C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7648C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000154632Leiden 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

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J.

Hum Mol Genet. 2000 Nov 1;9(18):2599-608.

PubMed [citation]
PMID:
11063719

Details of each submission

From Leiden Muscular Dystrophy (RYR1), SCV000154632.1

#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: Jul 29, 2024