NM_000540.2(RYR1):c.6104A>T (p.His2035Leu) AND Congenital myopathy with fiber type disproportion

Clinical significance:Pathogenic (Last evaluated: Apr 11, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000034929.1

Allele description [Variation Report for NM_000540.2(RYR1):c.6104A>T (p.His2035Leu)]

NM_000540.2(RYR1):c.6104A>T (p.His2035Leu)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.2(RYR1):c.6104A>T (p.His2035Leu)
HGVS:
  • NC_000019.10:g.38490709A>T
  • NG_008866.1:g.62010A>T
  • NM_000540.2:c.6104A>T
  • NP_000531.2:p.His2035Leu
  • LRG_766t1:c.6104A>T
  • LRG_766:g.62010A>T
  • LRG_766p1:p.His2035Leu
  • NC_000019.9:g.38981349A>T
  • P21817:p.His2035Leu
Protein change:
H2035L
Links:
UniProtKB: P21817#VAR_063847; dbSNP: 367543056
NCBI 1000 Genomes Browser:
rs367543056
Molecular consequence:
  • NM_000540.2:c.6104A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital myopathy with fiber type disproportion (CFTD)
Synonyms:
RYR1-Related Congenital Fiber-Type Disproportion; Congenital Fiber-Type Disproportion
Identifiers:
MedGen: C0546264; Orphanet: 2020; OMIM: 255310
Age of onset:
Infancy

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000058536GeneReviewsno assertion criteria providedpathologic
(Apr 11, 2013)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000058536.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Dec 6, 2016