ID   IC692
AC   CVCL_EP80
DR   Wikidata; Q54897215
RX   PubMed=14647443;
CC   Sequence variation: Mutation; HGNC; HGNC:1100; BRCA1; Simple; p.Asp1692His (c.5074G>C); ClinVar=VCV000037633; Zygosity=Unspecified (PubMed=14647443).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C36100; BRCA1 syndrome
DI   ORDO; Orphanet_145; Hereditary breast and ovarian cancer syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 10-04-25; Version: 13
//
RX   PubMed=14647443; DOI=10.1038/sj.onc.1207191;
RA   Coupier I., Baldeyron C., Rousseau A., Mosseri V., Pages-Berhouet S.,
RA   Caux-Moncoutier V., Papadopoulo D., Stoppa-Lyonnet D.;
RT   "Fidelity of DNA double-strand break repair in heterozygous cell lines
RT   harbouring BRCA1 missense mutations.";
RL   Oncogene 23:914-919(2004).
//