Transcript #00001847 (NM_000350.2, ABCA4 gene)

Transcript name ATP-binding cassette, sub-family A (ABC1), member 4
Gene name ABCA4 (ATP-binding cassette, sub-family A (ABC1), member 4)
Chromosome 1
Transcript - NCBI ID NM_000350.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000341.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

8887 entries on 89 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. ? c.? r.(?) p.(?)
+?/. ? c.? r.(?) p.(?)
+/. ? c.? r.(?) p.?
?/. ? c.? r.(?) p.(?)
+?/. 36 c.? r.(?) p.(?)
+?/. ? c.? r.(?) p.(?)
+?/. ? c.? r.(?) p.(?)
+?/. ? c.? r.(?) p.(?)
./. - c.-4263834_*647310del r.? p.?
+?/. _1_50_ c.(?_-1)_(*1_?)del r.0 p.0
+?/. 1 c.1A>G r.(?) p.0?
+?/. 1 c.1A>G r.(?) p.0?
+?/. 1 c.1A>G r.(?) p.0?
+/+ 1 c.1A>G r.(?) p.(Met1?)
+/. - c.1A>G r.(?) p.0?
+?/. 1 c.1A>G r.(?) p.0?
+/. 1 c.1A>G r.(?) p.0?
+?/. 1 c.1A>G r.(?) p.0?
+?/. 1 c.1A>G r.(?) p.0?
+?/. 1 c.1A>G r.(?) p.0?
+/. 1 c.1A>G r.(?) p.0?
+/. 1 c.1_3delinsGTC r.(?) p.0?
+/+ 1 c.1_3delinsGTC r.(?) p.(Met1?)
+/+ _1_50_ c.1_6822del r.0 p.0
+?/. 1 c.2T>C r.(?) p.0?
+/. 1 c.2T>C r.(?) p.0?
+/+ 1 c.2T>C r.(?) p.(Met1?)
+?/+? 1 c.3G>A r.(?) p.(Met1?)
+?/. 1 c.3G>A r.(?) p.0?
+/. - c.22C>T r.(?) p.(Gln8*)
+?/. 1 c.22C>T r.(?) p.(Gln8*)
?/? 1 c.22C>T r.(?) p.(Gln8*)
+?/+? 1 c.32T>C r.(?) p.(Leu11Pro)
?/. 1 c.32T>C r.(?) p.(Leu11Pro)
+/. 1 c.32T>C r.(?) p.(Leu11Pro)
+/. 1 c.32T>C r.(?) p.(Leu11Pro)
+?/. 1 c.32T>C r.(?) p.(Leu11Pro)
?/. 1 c.32T>C r.(?) p.(Leu11Pro)
+?/. 1 c.32T>C r.(?) p.(Leu11Pro)
+?/. 1 c.32T>C r.(?) p.(Leu11Pro)
?/. 1 c.32T>C r.(?) p.(Leu11Pro)
?/. 1 c.38_46del r.(?) p.(Lys13_Trp15del)
?/. 1 c.38_46del r.(?) p.(Lys13_Trp15del)
+?/+? 1 c.38_46del r.(?) p.(Lys13_Trp15del)
?/. 1 c.42C>A r.(?) p.(Asn14Lys)
+/. 1 c.43_47del r.(?) p.(Trp15Profs*37)
+/+ 1 c.43_47del r.(?) p.(Trp15Profs*37)
+?/. 1 c.45G>A r.(?) p.(Trp15*)
+/+ 1 c.45G>A r.(?) p.(Trp15*)
+?/. 1 c.45G>A r.(?) p.(Trp15*)
+?/+? 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. 1 c.52C>T r.(?) p.(Arg18Trp)
?/. 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. 1 c.52C>T r.(?) p.(Arg18Trp)
+/. 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. 1 c.52C>T r.(?) p.(Arg18Trp)
?/. 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. 1 c.52C>T r.(?) p.(Arg18Trp)
?/. 1 c.52C>T r.(?) p.(Arg18Trp)
+?/. 1 c.53G>A r.(?) p.(Arg18Gln)
+?/. - c.53G>C r.(?) p.(Arg18Pro)
?/. 1 c.53G>C r.(?) p.(Arg18Pro)
+/. - c.61C>T r.(?) p.(Gln21Ter)
+/+ 1 c.61C>T r.(?) p.(Gln21*)
+?/. 1 c.61C>T r.(?) p.(Gln21*)
+?/. 1 c.61C>T r.(?) p.(Gln21*)
?/. 1 c.66G>A r.(?) p.[(Lys21=, ?)]
+/. - c.66G>A r.spl p.(Lys22=)
?/. 1i c.66+3A>C r.(spl?) p.(?)
+?/+? 1i c.66+3A>C r.spl? p.?
+?/. 1i c.67-2A>G r.spl p.?
+/. 1i c.67-1del r.spl p.?
+/. 1i c.67-1del r.spl p.?
+/. 1i c.67-1del r.spl p.?
+/. 1i c.67-1del r.spl p.?
+?/. 2 c.70C>T r.(?) p.(Arg24Cys)
?/. 2 c.70C>T r.(?) p.(Arg24Cys)
+?/+? 2 c.70C>T r.(?) p.(Arg24Cys)
+?/. - c.70C>T r.(?) p.(Arg24Cys)
+?/+? 2 c.70C>T r.(?) p.(Arg24Cys)
+?/. - c.71G>A r.(?) p.(Arg24His)
+/. 2 c.71G>A r.(?) p.(Arg24His)
+?/. 2 c.71G>A r.(?) p.(Arg24His)
+?/. 2 c.71G>A r.(?) p.(Arg24His)
+/. 2 c.71G>A r.(?) p.(Arg24His)
+?/. 2 c.71G>A r.(?) p.(Arg24His)
+?/. 2 c.71G>A r.(?) p.(Arg24His)
+?/. 2 c.71G>A r.(?) p.(Arg24His)
+?/. 2 c.71G>A r.(?) p.(Arg24His)
?/. 2 c.71G>A r.(?) p.(Arg24His)
?/. - c.71G>A r.(?) p.(Arg24His)
+?/. - c.71G>A r.(?) p.(Arg24His)
?/. 2 c.71G>A r.(?) p.(Arg24His)
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