ID   GM26130
AC   CVCL_A2VL
DR   Coriell; GM26130
DR   Wikidata; Q105507000
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:7577; MYH7; Simple; c.3337-4dupC (c.3337-3dupC); ClinVar=VCV000042956; Zygosity=Heterozygous (Coriell=GM26130).
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Gly334Val (c.1001G>T); ClinVar=VCV000159825; Zygosity=Heterozygous (Coriell=GM26130).
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; c.1186_1187delinsTC; Zygosity=Heterozygous (Coriell=GM26130).
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Pro2496Arg (c.7487C>G); ClinVar=VCV000159859; Zygosity=Heterozygous (Coriell=GM26130).
CC   Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple; p.Arg3113His (c.9338G>A); ClinVar=VCV000130688; Zygosity=Heterozygous (Coriell=GM26130).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126689; Centronuclear myopathy 1
DI   ORDO; Orphanet_169189; Autosomal dominant centronuclear myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//