ID   GM26114
AC   CVCL_A2VF
DR   Coriell; GM26114
DR   Wikidata; Q105506986
CC   Population: Caucasian; Lithuanian.
CC   Sequence variation: Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Asp27Asn (c.79G>A); Zygosity=Heterozygous (Coriell=GM26114).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Arg1894Gly (c.5680A>G); ClinVar=VCV000465617; Zygosity=Heterozygous (Coriell=GM26114).
CC   Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple; p.Pro4678Arg (c.14033C>G) (p.Pro3751Arg, c.11252C>G) (p.Pro4995Arg, c.14984C>G); ClinVar=VCV000046595; Zygosity=Heterozygous (Coriell=GM26114).
CC   Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple; p.Val5118Met (c.15352G>A) (p.Val4191Met, c.12571G>A) (p.Val5435Met, c.16303G>A); ClinVar=VCV000046614; Zygosity=Heterozygous (Coriell=GM26114).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129870; Nemaline myopathy 3
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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