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NM_000540.3(RYR1):c.1205T>C (p.Met402Thr) AND Central core myopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 11, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000056214.2

Allele description [Variation Report for NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)]

NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)

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.1205T>C (p.Met402Thr)
HGVS:
  • NC_000019.10:g.38451846T>C
  • NG_008866.1:g.23147T>C
  • NM_000540.3:c.1205T>CMANE SELECT
  • NM_001042723.2:c.1205T>C
  • NP_000531.2:p.Met402Thr
  • NP_000531.2:p.Met402Thr
  • NP_001036188.1:p.Met402Thr
  • LRG_766t1:c.1205T>C
  • LRG_766:g.23147T>C
  • LRG_766p1:p.Met402Thr
  • NC_000019.9:g.38942486T>C
  • NM_000540.2:c.1205T>C
  • P21817:p.Met402Thr
Protein change:
M402T
Links:
UniProtKB: P21817#VAR_063846; dbSNP: rs118192117
NCBI 1000 Genomes Browser:
rs118192117
Molecular consequence:
  • NM_000540.3:c.1205T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.1205T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Central core myopathy (CMYP1A)
Synonyms:
Central core disease; Central core disease of muscle; Muscle core disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007294; MedGen: C0751951; Orphanet: 597; OMIM: 117000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000087303GeneReviews
no assertion criteria provided
pathologic
(May 11, 2010) 		not providedcuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000087303.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Aug 5, 2023