RYR1:c.9978C>A (p.Asn3326Lys) AND Congenital myopathy with fiber type disproportion

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

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000034932.1

Allele description [Variation Report for RYR1:c.9978C>A (p.Asn3326Lys)]

Gene:
RYR1:ryanodine receptor 1 (skeletal) [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
RYR1:c.9978C>A (p.Asn3326Lys)
HGVS:
  • NC_000019.10:g.38517651C>A
  • NG_008866.1:g.88952C>A
  • NM_000540.2:c.9978C>A
  • NP_000531.2:p.Asn3326Lys
  • NC_000019.9:g.39008291C>A
Protein change:
N3326K
Links:
GeneReviews: NBK1259; dbSNP: 367543057
NCBI 1000 Genomes Browser:
rs367543057
Molecular consequence:
  • NM_000540.2:c.9978C>A: missense variant [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital myopathy with fiber type disproportion (CFTD)
Synonyms:
Congenital fiber type disproportion; Congenital fiber-type disproportion myopathy; RYR1-Related Congenital Fiber-Type Disproportion; See all synonyms [MedGen]
Identifiers:
GeneReviews: NBK1259; MedGen: C0546264; OMIM: 255310; Orphanet: 2020
Age of onset:
Neonatal/infancy

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000058539GeneReviewspathologic
(Apr 11, 2013)
not providedliterature only

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000058539.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jun 27, 2014

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