• Mutation; HGNC; HGNC:882; ATR; Simple; p.Gly674Gly (c.2022A>G) (2101A>G); ClinVar=VCV000008307; Zygosity=Homozygous; Note=Silent mutation that causes increased levels of skipping exon 9 and activation of two cryptic splicing events from sites in exon 9 leading to termination in exon 10 (PubMed=12640452).
  

PubMed=12640452; DOI=10.1038/ng1129
O'Driscoll M., Ruiz-Perez V.L., Woods C.G., Jeggo P.A., Goodship J.A.
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.
Nat. Genet. 33:497-501(2003)

PubMed=18077418; DOI=10.1073/pnas.0707579104; PMCID=PMC2148387
Stokes M.P., Rush J., MacNeill J., Ren J.M., Sprott K., Nardone J., Yang V., Beausoleil S.A., Gygi S.P., Livingstone M., Zhang H., Polakiewicz R.D., Comb M.J.
Profiling of UV-induced ATM/ATR signaling pathways.
Proc. Natl. Acad. Sci. U.S.A. 104:19855-19860(2007)

PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013
Wilson P.F., Nham P.B., Urbin S.S., Hinz J.M., Jones I.M., Thompson L.H.
Inter-individual variation in DNA double-strand break repair in human fibroblasts before and after exposure to low doses of ionizing radiation.
Mutat. Res. 683:91-97(2010)