Full data view for gene A1BG

Information The variants shown are described using the NM_130786.3 transcript reference sequence.

150 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Template     

Technique     

Tissue     

Disease     

Gender     

Remarks     

Panel size     

Owner     
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Paternal (inferred) g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Unknown g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Unknown g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Unknown g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Both (homozygous) g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Unknown g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Both (homozygous) g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Unknown g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Unknown g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Unknown g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Unknown g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Unknown g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Both (homozygous) g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Unknown g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Unknown g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Unknown g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Unknown g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3677C>A -3677 r.(=) p.(=) - utr-5 - Unknown g.58868480G>T - ZNF497_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3362C>T -3362 r.(=) p.(=) - utr-5 - Unknown g.58868165G>A - ZNF497_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3040G>A -3040 r.(=) p.(=) - utr-5 - Unknown g.58867843C>T - ZNF497_000006 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3040G>A -3040 r.(=) p.(=) - utr-5 - Unknown g.58867843C>T - ZNF497_000006 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2794C>T -2794 r.(=) p.(=) - utr-5 - Unknown g.58867597G>A - ZNF497_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Unknown g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Unknown g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-77_-76insC -77 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864879_58864880insG - ZNF497_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Unknown g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Unknown g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Unknown g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-64T>C -64 r.(=) p.(=) - utr-5 - Both (homozygous) g.58864867A>G - ZNF497_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.34+14G>C 34 r.(=) p.(=) - intron 14 Unknown g.58864756C>G - ZNF497_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Both (homozygous) g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Both (homozygous) g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Both (homozygous) g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Both (homozygous) g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Both (homozygous) g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Both (homozygous) g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Both (homozygous) g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Both (homozygous) g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Unknown g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Both (homozygous) g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Both (homozygous) g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Both (homozygous) g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Both (homozygous) g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Unknown g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.155A>G 155 r.(?) p.(His52Arg) - missense - Unknown g.58864479T>C - A1BG_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
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