ID   GM23417
AC   CVCL_BV66
DR   Coriell; GM23417
DR   Wikidata; Q54853060
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Gly12Valfs*2 (c.35delG); ClinVar=VCV000017004; Zygosity=Heterozygous (Coriell=GM23417).
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Met34Thr (c.101T>C); ClinVar=VCV000017000; Zygosity=Heterozygous (Coriell=GM23417).
CC   Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple; p.Val10952Leu (c.32854G>C) (p.Val13520Leu, c.40558G>C); ClinVar=VCV000130666; Zygosity=Heterozygous (Coriell=GM23417).
CC   Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple; c.39893-1G>A (IVS192-1G>A) (c.37112-1G>A, IVS191-1G>A); ClinVar=VCV000202368; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM23417).
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   NCIt; C129022; Deafness, autosomal recessive 1A
DI   ORDO; Orphanet_90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB
DI   ORDO; Orphanet_169189; Autosomal dominant centronuclear myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_HK83 ! GM25936
SX   Male
AG   9Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 14
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