Transcript #00017591 (NM_002905.3, RDH5 gene)

Transcript name transcript variant 2
Gene name RDH5 (retinol dehydrogenase 5 (11-cis/9-cis))
Chromosome 12
Transcript - NCBI ID NM_002905.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002896.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

298 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-8440G>A r.(?) p.(=)
-/. - c.-8440G>A r.(?) p.(=)
-?/. - c.-8402A>C r.(?) p.(=)
+?/. - c.-33+2dup r.(?) p.?
+?/. - c.-33+2dup r.(?) p.?
+?/. - c.-33+2dup r.(?) p.?
+?/. - c.-33+2dup r.(?) p.?
+?/. - c.-33+2dup r.(?) p.?
+?/. - c.-33+2dup r.(?) p.?
+?/. - c.-33+2dup r.(?) p.?
+?/. - c.-33+2dup r.(?) p.?
+?/. - c.? r.(?) p.?
-?/. - c.31C>T r.(?) p.(Leu11Phe)
?/. - c.53T>C r.(?) p.(Leu18Pro)
+?/? 2 c.55A>G r.(?) p.(Arg19Gly)
-/. - c.62G>A r.(?) p.(Arg21Gln)
+/. - c.71_74del r.(?) p.(Leu24Profs*36)
+?/? 2 c.71_74del r.(?) p.(Leu24Profs*36)
+?/? 2 c.71_74del r.(?) p.(Leu24Profs*36)
+?/? 2 c.71_74del r.(?) p.(Leu24Profs*36)
+/. 2 c.71_74del r.(?) p.(Leu24Profs*36)
+?/? 2 c.95del r.(?) p.(Phe32Serfs*29)
-?/. - c.97A>G r.(?) p.(Ile33Val)
?/. - c.97A>G r.(?) p.(Ile33Val)
+?/? 2 c.98T>A r.(?) p.(Ile33Asn)
+?/? 2 c.98T>C r.(?) p.(Ile33Thr)
+?/. 2 c.103G>A r.(?) p.(Gly35Ser)
+?/? 2 c.103G>A r.(?) p.(Gly35Ser)
+?/? 2 c.103G>A r.(?) p.(Gly35Ser)
+?/? 2 c.103G>A r.(?) p.(Gly35Ser)
+?/? 2 c.103G>A r.(?) p.(Gly35Ser)
+?/? 2 c.103G>A r.(?) p.(Gly35Ser)
+?/? 2 c.103G>A r.(?) p.(Gly35Ser)
+?/? 2 c.103G>A r.(?) p.(Gly35Ser)
+?/. - c.103G>A r.(?) p.(Gly35Ser)
+?/. - c.103G>A r.(?) p.(Gly35Ser)
+?/. - c.103G>A r.(?) p.(Gly35Ser)
+?/? 2 c.124C>T r.(?) p.(Arg42Cys)
+?/? 2 c.129del r.(?) p.(Leu44Trpfs*17)
+/. - c.160C>T r.(?) p.(Arg54*)
+/. - c.160C>T r.(?) p.(Arg54*)
+/. - c.160C>T r.(?) p.(Arg54*)
+/. - c.160C>T r.(?) p.(Arg54*)
+?/? 2 c.160C>T r.(?) p.(Arg54*)
+?/? 2 c.160C>T r.(?) p.(Arg54*)
+?/? 2 c.160C>T r.(?) p.(Arg54*)
+?/? 2 c.160C>T r.(?) p.(Arg54*)
+?/? 2 c.160C>T r.(?) p.(Arg54*)
+?/? 2 c.160C>T r.(?) p.(Arg54*)
+?/? 2 c.160C>T r.(?) p.(Arg54*)
+?/? 2 c.160C>T r.(?) p.(Arg54*)
+?/? 2 c.160C>T r.(?) p.(Arg54*)
+?/? 2 c.160C>T r.(?) p.(Arg54*)
+/. 2 c.160C>T r.(?) p.(Arg54*)
+?/? 2 c.175T>A r.(?) p.(Cys59Ser)
+?/. - c.208C>T r.(?) p.(Arg70Trp)
+?/. 2 c.211_214dup r.(?) p.(Ala72Glyfs*15)
+?/? 2 c.211_214dup r.(?) p.(Ala72Glyfs*15)
+?/? 2 c.218C>T r.(?) p.(Ser73Phe)
+?/. - c.218C>T r.(?) p.(Ser73Phe)
+/. - c.243_246del r.(?) p.(Asp82Serfs*27)
+?/. - c.259C>T r.(?) p.(Gln87Ter)
?/. - c.261G>C r.(?) p.(Gln87His)
+?/? 2 c.285G>A r.(?) p.(Trp95*)
+?/? 2i c.310+1G>A r.spl? p.?
+?/. - c.313C>A r.(?) p.(Leu105Ile)
+?/? 3 c.319G>C r.(?) p.(Gly107Arg)
+?/? 3 c.319G>C r.(?) p.(Gly107Arg)
+?/? 3 c.319G>C r.(?) p.(Gly107Arg)
+?/? 3 c.319G>C r.(?) p.(Gly107Arg)
+?/. - c.319G>C r.(?) p.(Gly107Arg)
+?/. - c.319G>C r.(?) p.(Gly107Arg)
+?/? 3 c.346G>C r.(?) p.(Gly116Arg)
+?/? 3 c.347_348insCAG r.(?) p.(Gly116_Ile117insSer)
-?/. - c.366A>G r.(?) p.(Pro122=)
+/. - c.382G>A r.(?) p.(Asp128Asn)
+?/? 3 c.382G>A r.(?) p.(Asp128Asn)
+?/? 3 c.382G>A r.(?) p.(Asp128Asn)
+?/? 3 c.382G>A r.(?) p.(Asp128Asn)
+?/? 3 c.382G>A r.(?) p.(Asp128Asn)
+?/? 3 c.382G>A r.(?) p.(Asp128Asn)
+?/. 3 c.382G>A r.(?) p.(Asp128Asn)
+?/. 3 c.382G>A r.(?) p.(Asp128Asn)
+?/. 3 c.382G>A r.(?) p.(Asp128Asn)
+?/. - c.382G>A r.(?) p.(Asp128Asn)
+?/? 3 c.394G>A r.(?) p.(Val132Met)
+?/? 3 c.394G>A r.(?) p.(Val132Met)
+?/? 3 c.394G>A r.(?) p.(Val132Met)
+/. - c.412del r.(?) p.(Met138Trpfs*21)
+/. 3 c.412del r.(?) p.(Met138Trpfs*21)
+?/? 3 c.416G>T r.(?) p.(Gly139Val)
-/. 3 c.423C>A r.(=) p.(=)
-/. - c.423C>T r.(?) p.(Ile141=)
?/. - c.464G>A r.(?) p.(Arg155Gln)
+/. 3 c.469C>T r.(?) p.(Arg157Trp)
+?/? 3 c.469C>T r.(?) p.(Arg157Trp)
+?/. 3 c.469C>T r.(?) p.(Arg157Trp)
+?/. 3 c.469C>T r.(?) p.(Arg157Trp)
+?/. - c.469C>T r.(?) p.(Arg157Trp)
+?/. - c.469C>T r.(?) p.(Arg157Trp)
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