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

24883 entries on 249 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.(?)
+/. 14i_17i c.(2160+1_2161-1)_(2653+1_2654-1) r.(?) p.(?)
+/. - c.(2382+1_2382-1)_(2587+1_2587-1) r.spl p.(?)
+/. 17i_50 c.(2653+1_2654-1)_(*1_?)del r.(?) p.(Gly885Valfs*71)
+/. _1_49i c.(?_*1)_(6817-1_6818+1)del r.(?) p.(?)
+?/. 50 c.*10C>A r.(?) p.(Ala2037Asp)
?/. 50 c.*55G>A r.(?) p.(?)
+?/. - c.0? r.0? p.(?)
+/. 39i c.5585-164_*400{0} r.(?) p.(?)
+/. - c.? r.? p.?
+/. - c.? r.? p.?
+?/. - c.? r.? p.?
+/. 23i_50_ c.? r.(?) p.(?)
+/. 11i_13i c.? r.? p.?
+/. 38 c.? r.(?) p.(?)
+/. 19i_22i c.? r.? p.?
-?/. - c.? r.? p.?
+/. - c.? r.(?) p.?
+/. - c.? r.(?) p.?
./. - c.-4263834_*647310del r.? p.?
?/. 1 c.-92C>T r.(?) p.(?)
?/. 1 c.-14G>A 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.(Met1Val)
+?/. 1 c.1A>G r.(?) p.0?
+?/. 1 c.1A>G r.(?) p.0?
+/. 1 c.1A>G r.(?) p.(Met1Val)
+/. 1 c.1A>G r.(?) p.(Met1Val)
+/. 1 c.1A>G r.(?) p.(Met1Val)
+/. 1 c.1A>G r.(?) p.(Met1Val)
+/. 1 c.1A>G r.? p.?
+/. 1 c.1A>G r.(?) p.(Met1Val)
+/. 1 c.1A>G r.(?) p.(Met1Val)
+/. 1 c.1A>G r.(?) p.(Met1Val)
+?/. 1 c.1A>G r.(?) p.(Met1?)
+/. 1 c.1A>G r.(?) p.(Met1Val)
+/. 1 c.1A>G r.(?) p.(Met1Val)
+/. 1 c.1A>G r.(?) p.(Met1Val)
+/+ 1 c.1A>G r.(?) p.(Met1?)
+/. - c.1A>G r.(?) p.0?
+/. 1 c.1A>G r.(?) p.(Met1Val)
+?/. 1 c.1A>G r.(?) p.0?
+?/. 1 c.1A>G r.(?) p.(Met1?)
+/. 1 c.1A>G r.(?) p.0?
+/. 1 c.1A>G r.(?) p.(Met1Val)
+/. 1 c.1A>G r.(?) p.(Met1Val)
+/. 1 c.1A>G r.(?) p.(Met1Val)
+?/. 1 c.1A>G r.(?) p.0?
+?/. 1 c.1A>G r.(?) p.0?
+/. 1 c.1A>G r.(?) p.(Met1Val)
+/. 1 c.1A>G r.(?) p.(Met1Val)
+?/. 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.(=,?)
+/. 1 c.2T>C r.(?) p.0?
+/+ 1 c.2T>C r.(?) p.(Met1?)
+/. 1 c.3G>A r.(?) p.(Met1Ile)
+?/+? 1 c.3G>A r.(?) p.(Met1?)
+?/. 1 c.3G>A r.(?) p.0?
+/. 1 c.3G>T r.(?) p.(?)
+/. 1 c.16C>T r.(?) p.(Gln6*)
+?/. 1 c.20T>A r.(?) p.(Ile7Lys)
+/. 1 c.21dup r.(?) p.(Gln8Hisfs*33)
+/. 1 c.21dup r.(?) p.(Gln8Hisfs*33)
+/. 1 c.21dup r.(?) p.(Gln8Hisfs*33)
+/. - c.22C>T r.(?) p.(Gln8*)
+?/. 1 c.22C>T r.(?) p.(Gln8*)
?/? 1 c.22C>T r.(?) p.(Gln8*)
+/. 1 c.22C>T r.(?) p.(Gln8*)
+/. 1 c.29dup r.(?) p.(Leu10Phefs*44)
+?/. 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.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.33C>T r.(?) p.(Leu11=)
+/. 1 c.36G>A r.(?) p.(Trp12*)
+?/. 1 c.37A>G r.(?) p.(Lys13Gly)
?/. 1 c.38_46del r.(?) p.(Lys13_Trp15del)
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