View transcript #00003147

Transcript name retinal pigment epithelium-specific protein 65kDa
Gene name RPE65 (retinal pigment epithelium-specific protein 65kDa)
Chromosome 1
Transcript - NCBI ID NM_000329.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000320.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

7 entries on 1 page. Showing entries 1 - 7.
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Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
?/? c.700C>T p.(Arg234*) stop_gained - 7/14 - r.(?) -
?/? c.907A>T p.(Lys303*) stop_gained - 9/14 - r.(?) -
-/- c.963T>G p.(Asn321Lys) missense_variant - 9/14 benign(0.029) r.(?) tolerated(0.12)
?/? c.1102T>C p.(Tyr368His) missense_variant - 10/14 benign(0.369) r.(?) deleterious(0)
?/? c.1292A>G p.(Tyr431Cys) missense_variant - 12/14 probably_damaging(0.992) r.(?) deleterious(0)
+/+ c.1301C>T p.(Ala434Val) missense_variant - 12/14 benign(0.016) r.(?) tolerated(0.55)
?/? c.1543C>T p.(Arg515Trp) missense_variant - 14/14 probably_damaging(1) r.(?) deleterious(0)
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