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NM_000540.3(RYR1):c.51_53del (p.Asp17del) 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:
RCV000119635.1

Allele description [Variation Report for NM_000540.3(RYR1):c.51_53del (p.Asp17del)]

NM_000540.3(RYR1):c.51_53del (p.Asp17del)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.51_53del (p.Asp17del)
HGVS:
  • NC_000019.10:g.38440750_38440752del
  • NG_008866.1:g.12051_12053del
  • NM_000540.3:c.51_53delMANE SELECT
  • NM_001042723.2:c.51_53del
  • NP_000531.2:p.Asp17del
  • NP_000531.2:p.Asp17del
  • NP_001036188.1:p.Asp17del
  • LRG_766t1:c.51_53del
  • LRG_766:g.12051_12053del
  • LRG_766p1:p.Asp17del
  • NC_000019.9:g.38931390_38931392del
  • NM_000540.2(RYR1):c.51_53del
  • NM_000540.2:c.51_53del
  • p.(Asp17del)
  • p.Asp17del
Protein change:
D17del
Links:
dbSNP: rs193922745
NCBI 1000 Genomes Browser:
rs193922745
Molecular consequence:
  • NM_000540.3:c.51_53del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042723.2:c.51_53del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000154542Leiden 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

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

Details of each submission

From Leiden Muscular Dystrophy (RYR1), SCV000154542.1

#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: Sep 16, 2024