All variants in the ABHD14B gene

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

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

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     
./. - c.-4504C>A -4504 r.(=) p.(=) - utr-5 - g.52012456G>T - ABHD14B_000007 - - LOVD
./. - c.-4504C>A -4504 r.(=) p.(=) - utr-5 - g.52012456G>T - ABHD14B_000007 - - LOVD
./. - c.-4368C>T -4368 r.(=) p.(=) - utr-5 - g.52012320G>A - ABHD14B_000006 - - LOVD
./. - c.-4298T>A -4298 r.(=) p.(=) - utr-5 - g.52012250A>T - ABHD14B_000005 - - LOVD
./. - c.-4298T>A -4298 r.(=) p.(=) - utr-5 - g.52012250A>T - ABHD14B_000005 - - LOVD
./. - c.-4298T>A -4298 r.(=) p.(=) - utr-5 - g.52012250A>T - ABHD14B_000005 - - LOVD
./. - c.-4298T>A -4298 r.(=) p.(=) - utr-5 - g.52012250A>T - ABHD14B_000005 - - LOVD
./. - c.-4048G>C -4048 r.(=) p.(=) - utr-5 - g.52012000C>G - ABHD14B_000004 - - LOVD
./. - c.-4048G>C -4048 r.(=) p.(=) - utr-5 - g.52012000C>G - ABHD14B_000004 - - LOVD
./. - c.-3960C>T -3960 r.(=) p.(=) - utr-5 - g.52011912G>A - ABHD14B_000003 - - LOVD
./. - c.-3927G>A -3927 r.(=) p.(=) - utr-5 - g.52011879C>T - ABHD14B_000002 - - LOVD
./. - c.-3927G>A -3927 r.(=) p.(=) - utr-5 - g.52011879C>T - ABHD14B_000002 - - LOVD
./. - c.-3927G>A -3927 r.(=) p.(=) - utr-5 - g.52011879C>T - ABHD14B_000002 - - LOVD
./. - c.-3927G>A -3927 r.(=) p.(=) - utr-5 - g.52011879C>T - ABHD14B_000002 - - LOVD
./. - c.-3927G>A -3927 r.(=) p.(=) - utr-5 - g.52011879C>T - ABHD14B_000002 - - LOVD
./. - c.-3927G>A -3927 r.(=) p.(=) - utr-5 - g.52011879C>T - ABHD14B_000002 - - LOVD
./. - c.-3927G>A -3927 r.(=) p.(=) - utr-5 - g.52011879C>T - ABHD14B_000002 - - LOVD
./. - c.-3927G>A -3927 r.(=) p.(=) - utr-5 - g.52011879C>T - ABHD14B_000002 - - LOVD
./. - c.211+50G>A 211 r.(=) p.(=) - intron 50 g.52005426C>T - ABHD14B_000001 - - LOVD
./. - c.211+50G>A 211 r.(=) p.(=) - intron 50 g.52005426C>T - ABHD14B_000001 - - LOVD
./. - c.211+50G>A 211 r.(=) p.(=) - intron 50 g.52005426C>T - ABHD14B_000001 - - LOVD
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