ID   FMD patient III.4 LCL
AC   CVCL_E7TW
RX   PubMed=25305078;
CC   Population: Caucasian; Spanish.
CC   Sequence variation: Mutation; HGNC; HGNC:3057; DTNA; Simple; p.Val742Phe (c.2224G>T); ClinVar=VCV000140609; Zygosity=Heterozygous; Note=Produces a novel splice site which skips exon 21 and leads to a shorter alternative transcript (PubMed=25305078).
CC   Sequence variation: Mutation; HGNC; HGNC:25911; FAM136A; Simple; p.Gln76Ter (c.226C>T) (p.Gln183Ter, c.547C>T); ClinVar=VCV000140608; Zygosity=Heterozygous (PubMed=25305078).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C185243; Meniere disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_B5H2 ! GENYOi007-A
SX   Female
AG   >22Y
CA   Transformed cell line
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=25305078; DOI=10.1093/hmg/ddu524; PMCID=PMC4834881;
RA   Requena T., Cabrera S., Martin-Sierra C., Price S.D., Lysakowski A.,
RA   Lopez-Escamez J.A.;
RT   "Identification of two novel mutations in FAM136A and DTNA genes in
RT   autosomal-dominant familial Meniere's disease.";
RL   Hum. Mol. Genet. 24:1119-1126(2015).
//