Unique variants in the AACS gene

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

17 entries on 1 page. Showing entries 1 - 17.
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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     
./. 2 - c.133+40C>A 133 r.(=) p.(=) - intron 40 g.125550303C>A - AACS_000009 - - LOVD
./. 1 - c.319C>A 319 r.(?) p.(=) - coding-synonymous - g.125561118C>A - AACS_000010 - - LOVD
./. 12 - c.352A>G 352 r.(?) p.(Ile118Val) - missense - g.125561151A>G - AACS_000001 - - LOVD
./. 1 - c.624G>A 624 r.(?) p.(=) - coding-synonymous - g.125587278G>A - AACS_000021 - - LOVD
./. 1 - c.828C>T 828 r.(?) p.(=) - coding-synonymous - g.125591727C>T - AACS_000022 - - LOVD
./. 19 - c.915+30C>T 915 r.(=) p.(=) - intron 30 g.125591844C>T - AACS_000016 - - LOVD
./. 1 - c.996+31T>G 996 r.(=) p.(=) - intron 31 g.125599134T>G - AACS_000017 - - LOVD
./. 8 - c.997-35C>T 997 r.(=) p.(=) - intron 35 g.125603152C>T - AACS_000005 - - LOVD
./. 1 - c.1122-6C>T 1122 r.(=) p.(=) - splice 6 g.125609245C>T - AACS_000018 - - LOVD
./. 1 - c.1308A>C 1308 r.(?) p.(=) - coding-synonymous-near-splice - g.125609569A>C - AACS_000019 - - LOVD
./. 1 - c.1309+38C>T 1309 r.(=) p.(=) - intron 38 g.125609608C>T - AACS_000020 - - LOVD
./. 18 - c.1423+19G>A 1423 r.(=) p.(=) - intron 19 g.125612839G>A - AACS_000011 - - LOVD
./. 17 - c.1620-32C>T 1620 r.(=) p.(=) - intron 32 g.125619308C>T - AACS_000006 - - LOVD
./. 1 - c.1845C>T 1845 r.(?) p.(=) - coding-synonymous - g.125621374C>T - AACS_000012 - - LOVD
./. 21 - c.1881+9A>G 1881 r.(=) p.(=) - intron 9 g.125621419A>G - AACS_000013 - - LOVD
./. 6 - c.1929C>T 1929 r.(?) p.(=) - coding-synonymous - g.125626685C>T - AACS_000014 - - LOVD
./. 3 - c.*10G>C 2029 r.(=) p.(=) - utr-3 - g.125626785G>C - AACS_000015 - - LOVD
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