Full data view for 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.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

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