ID   GM26124
AC   CVCL_D2ZD
DR   Coriell; GM26124
DR   Wikidata; Q127380908
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3756; FLNC; Simple; p.Ser868Gly (c.2602A>G); ClinVar=VCV000649876; Zygosity=Heterozygous (Coriell=GM26124).
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Pro2195Leu (c.6584C>T); ClinVar=VCV000590572; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM26124).
CC   Sequence variation: Mutation; HGNC; HGNC:3148; TYMP; Simple; c.929-6_929-3delCCGC; ClinVar=VCV000215324; Zygosity=Heterozygous (Coriell=GM26124).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C202545; Autosomal dominant congenital myopathy-1A
DI   ORDO; Orphanet_598; Multiminicore myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   12Y
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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