ID   AT53RM
AC   CVCL_XF27
SY   Ataxia Telangiectasia 53 RoMa
DR   Wikidata; Q93326374
RX   PubMed=9497252;
RX   PubMed=17124347;
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Ala1812_Phe1813delinsVal (c.5435_5437delCTT); ClinVar=VCV001747513; Zygosity=Heterozygous (PubMed=9497252).
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.6573-9G>A (IVS47-9G>A); ClinVar=VCV000642095; Zygosity=Heterozygous; Note=Activates a cryptic splice site (PubMed=9497252).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   12Y
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 11
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RX   PubMed=9497252; DOI=10.1086/301755; PMCID=PMC1376949;
RA   Gilad S., Chessa L., Khosravi R., Russell P., Galanty Y., Piane M.,
RA   Gatti R.A., Jorgensen T.J., Shiloh Y., Bar-Shira A.;
RT   "Genotype-phenotype relationships in ataxia-telangiectasia and
RT   variants.";
RL   Am. J. Hum. Genet. 62:551-561(1998).
//
RX   PubMed=17124347; DOI=10.1155/2006/740493; PMCID=PMC3862285;
RA   Magliozzi M., Piane M., Torrente I., Sinibaldi L., Rizzo G., Savio C.,
RA   Lulli P., De Luca A., Dallapiccola B., Chessa L.;
RT   "DHPLC screening of ATM gene in Italian patients affected by
RT   ataxia-telangiectasia: fourteen novel ATM mutations.";
RL   Dis. Markers 22:257-264(2006).
//