ABCMdb

ABCA4 p.His2032Arg

None has been submitted yet.

Publications

PMID: 24763286 [PubMed] Zhang X et al: "Molecular diagnosis of putative Stargardt disease by capture next generation sequencing."

No. Sentence Comment

156 Allele frequency Family Gene Identified Mutations (Exon) Reported or novel SIFT PolyPhen PANTHER 1000G ESP6500 In-house A ABCA4 c.5318C.T;p.A1773V (Exon 38) Reported D $ PD $ T $ 0 0 0 c.4128+1 G.T (Exon 27) Novel N/A N/A N/A 0 0 0 B ABCA4 c.6112C.T; p.R2038W (Exon 44) Reported D $ PD $ De $ 0 0.00008 0 c.1804C.T; p. R602W (Exon 13) Reported D $ Benign De $ 0 0 0 C ABCA4 c.1819G.A;p.G607R(Exon 13, Homo*) Reported D $ PD $ De $ 0 0.000077 0 D ABCA4 c.6095A.G; p.H2032R (Exon 44) Novel D $ PD $ De $ 0 0 0 c.3420C.G;p.C1140W (Exon 23) Novel D $ PD $ De $ 0 0 0 E PROM1 c.730C.T; p.R244X (Exon 6) Novel N/A N/A N/A 0 0 0 c.1983+1 C.T (Exon18) Novel N/A N/A N/A 0 0 0 $ D: Damaging; PD, Possibly damaging; T, Tolerated; DE,Deleterious; N/A, No Answer; *Homo, Homozygous mutation; , SIFT (http://sift.jcvi.org/); PolyPhen (http://genetics.bwh.harvard.edu/pph2/). Login to comment