Unique variants in the ABCA3 gene

Information The variants shown are described using the NM_001089.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     
./. 6 - c.-236C>G -236 r.(=) p.(=) - utr-5 - g.2378663G>C - ABCA3_000075 - - LOVD
./. 4 - c.-169G>A -169 r.(=) p.(=) - utr-5 - g.2378596C>T - ABCA3_000074 - - LOVD
./. 1 - c.-27+10T>A -27 r.(=) p.(=) - intron 10 g.2378444A>T - ABCA3_000073 - - LOVD
./. 1 - c.-9A>G -9 r.(=) p.(=) - utr-5 - g.2376476T>C - ABCA3_000072 - - LOVD
./. 1 - c.115C>G 115 r.(?) p.(Leu39Val) - missense - g.2376215G>C - ABCA3_000071 - - LOVD
./. 1 - c.293G>A 293 r.(?) p.(Arg98His) - missense - g.2376037C>T - ABCA3_000070 - - LOVD
./. 31 - c.319+50G>A 319 r.(=) p.(=) - intron 50 g.2375961C>T - ABCA3_000069 - - LOVD
./. 1 - c.336C>T 336 r.(?) p.(=) - coding-synonymous - g.2374516G>A - ABCA3_000068 - - LOVD
./. 1 - c.385G>A 385 r.(?) p.(Val129Met) - missense - g.2374467C>T - ABCA3_000067 - - LOVD
./. 1 - c.447+11C>T 447 r.(=) p.(=) - intron 11 g.2374394G>A - ABCA3_000066 - - LOVD
./. 2 - c.450G>A 450 r.(?) p.(=) - coding-synonymous-near-splice - g.2373687C>T - ABCA3_000065 - - LOVD
./. 6 - c.613+35C>T 613 r.(=) p.(=) - intron 35 g.2373489G>A - ABCA3_000064 - - LOVD
./. 2 - c.613+36G>A 613 r.(=) p.(=) - intron 36 g.2373488C>T - ABCA3_000063 - - LOVD
./. 1 - c.614-44C>T 614 r.(=) p.(=) - intron 44 g.2369885G>A - ABCA3_000062 - - LOVD
./. 1 - c.681C>T 681 r.(?) p.(=) - coding-synonymous - g.2369774G>A - ABCA3_000061 - - LOVD
./. 1 - c.954C>T 954 r.(?) p.(=) - coding-synonymous - g.2367685G>A - ABCA3_000060 - - LOVD
./. 1 - c.991-41C>G 991 r.(=) p.(=) - intron 41 g.2367445G>C - ABCA3_000059 - - LOVD
./. 16 - c.991-20C>T 991 r.(=) p.(=) - intron 20 g.2367424G>A - ABCA3_000058 - - LOVD
./. 8 - c.1059C>T 1059 r.(?) p.(=) - coding-synonymous - g.2367336G>A - ABCA3_000040 - - LOVD
./. 1 - c.1112-27G>A 1112 r.(=) p.(=) - intron 27 g.2358651C>T - ABCA3_000057 - - LOVD
./. 1 - c.1502C>A 1502 r.(?) p.(Ala501Glu) - missense - g.2350115G>T - ABCA3_000056 - - LOVD
./. 21 - c.1741+33A>G 1741 r.(=) p.(=) - intron 33 g.2349371T>C - ABCA3_000039 - - LOVD
./. 5 - c.1755C>G 1755 r.(?) p.(=) - coding-synonymous - g.2348528G>C - ABCA3_000055 - - LOVD
./. 1 - c.1869C>T 1869 r.(?) p.(=) - coding-synonymous - g.2348414G>A - ABCA3_000054 - - LOVD
./. 1 - c.2053-23C>T 2053 r.(=) p.(=) - intron 23 g.2347563G>A - ABCA3_000053 - - LOVD
./. 1 - c.2513+46T>C 2513 r.(=) p.(=) - intron 46 g.2342095A>G - ABCA3_000052 - - LOVD
./. 1 - c.2514-8C>T 2514 r.(=) p.(=) - splice 8 g.2339629G>A - ABCA3_000051 - - LOVD
./. 29 - c.2701-33G>C 2701 r.(=) p.(=) - intron 33 g.2338363C>G - ABCA3_000050 - - LOVD
./. 21 - c.3004+34C>T 3004 r.(=) p.(=) - intron 34 g.2337993G>A - ABCA3_000049 - - LOVD
./. 1 - c.3198C>T 3198 r.(?) p.(=) - coding-synonymous - g.2336775G>A - ABCA3_000048 - - LOVD
./. 2 - c.3483+32C>T 3483 r.(=) p.(=) - intron 32 g.2335411G>A - ABCA3_000047 - - LOVD
./. 1 - c.4085C>T 4085 r.(?) p.(Ala1362Val) - missense - g.2331461G>A - ABCA3_000046 - - LOVD
./. 31 - c.4116T>C 4116 r.(?) p.(=) - coding-synonymous - g.2331430A>G - ABCA3_000038 - - LOVD
./. 1 - c.5101G>A 5101 r.(?) p.(Glu1701Lys) - missense - g.2326689C>T - ABCA3_000045 - - LOVD
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