ID   EUFA349
AC   CVCL_G064
DR   Wikidata; Q54832906
RX   PubMed=9806548;
RX   PubMed=10468606;
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:3588; FANCG; Simple; p.Glu105Ter (c.313G>T); ClinVar=VCV000006712; Zygosity=Heterozygous (PubMed=9806548).
CC   Sequence variation: Mutation; HGNC; HGNC:3588; FANCG; Simple; c.1480+1G>C (IVS11+1G>C); ClinVar=VCV000006717; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=9806548).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125708; Fanconi anemia, complementation group G
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3-8Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 11
//
RX   PubMed=9806548; DOI=10.1038/3093;
RA   de Winter J.P., Waisfisz Q., Rooimans M.A., van Berkel C.G.M.,
RA   Bosnoyan-Collins L., Alon N., Carreau M., Bender O., Demuth I.,
RA   Schindler D., Pronk J.C., Arwert F., Hoehn H., Digweed M.,
RA   Buchwald M., Joenje H.;
RT   "The Fanconi anaemia group G gene FANCG is identical with XRCC9.";
RL   Nat. Genet. 20:281-283(1998).
//
RX   PubMed=10468606; DOI=10.1073/pnas.96.18.10320; PMCID=PMC17886;
RA   Waisfisz Q., de Winter J.P., Kruyt F.A.E., de Groot J., van der Weel L.,
RA   Dijkmans L.M., Zhi Y., Arwert F., Scheper R.J., Youssoufian H.,
RA   Hoatlin M.E., Joenje H.;
RT   "A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and
RT   FANCA.";
RL   Proc. Natl. Acad. Sci. U.S.A. 96:10320-10325(1999).
//