Unique variants in gene RPE65

Information The variants shown are described using the NM_000329.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
Legend  

Effect     

Reported     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
?/? 1 c.700C>T p.(Arg234*) stop_gained - 7/14 - r.(?) - subst g.68905269G>A - 5.800 - RPE65_000005 rs61752895 - ; 9326927 - - LOVD
?/? 1 c.907A>T p.(Lys303*) stop_gained - 9/14 - r.(?) - subst g.68904716T>A - 5.150 - RPE65_000004 rs61752904 - ; 14962443 - - LOVD
-/- 1 c.963T>G p.(Asn321Lys) missense_variant - 9/14 benign(0.029) r.(?) tolerated(0.12) subst g.68904660A>C - -0.301 - RPE65_000006 rs149916178 - ; clinvar; ensembl; 19431183;23757202 - - LOVD
?/? 1 c.1102T>C p.(Tyr368His) missense_variant - 10/14 benign(0.369) r.(?) deleterious(0) subst g.68903896A>G - 5.710 - RPE65_000003 rs62653011 - ; 12960219;13616783;11786058 - - LOVD
?/? 1 c.1292A>G p.(Tyr431Cys) missense_variant - 12/14 probably_damaging(0.992) r.(?) deleterious(0) subst g.68897011T>C - 5.130 - RPE65_000002 rs62636300 - ; 14962443 - - LOVD
+/+ 1 c.1301C>T p.(Ala434Val) missense_variant - 12/14 benign(0.016) r.(?) tolerated(0.55) subst g.68897002G>A - 5.130 - RPE65_000007 rs34627040 - ; clinvar; ensembl; - - - LOVD
?/? 1 c.1543C>T p.(Arg515Trp) missense_variant - 14/14 probably_damaging(1) r.(?) deleterious(0) subst g.68895518G>A - 3.140 - RPE65_000001 rs121917745 - ; 15557452 - - LOVD
Legend