Full data view for gene A3GALT2

Information The variants shown are described using the NM_001080438.1 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Splice distance     

GVS function     

Protein     

PolyPhen prediction     

Position     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Template     

Technique     

Tissue     

Disease     

Gender     

Remarks     

Panel size     

Owner     
./. - c.-3797C>T r.(=) - utr-5 p.(=) - -3797 Unknown g.33790496G>A - PHC2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3797C>T r.(=) - utr-5 p.(=) - -3797 Unknown g.33790496G>A - PHC2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3797C>T r.(=) - utr-5 p.(=) - -3797 Unknown g.33790496G>A - PHC2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3797C>T r.(=) - utr-5 p.(=) - -3797 Unknown g.33790496G>A - PHC2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3797C>T r.(=) - utr-5 p.(=) - -3797 Unknown g.33790496G>A - PHC2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3797C>T r.(=) - utr-5 p.(=) - -3797 Unknown g.33790496G>A - PHC2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-3757C>A r.(=) - utr-5 p.(=) - -3757 Unknown g.33790456G>T - PHC2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Both (homozygous) g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Both (homozygous) g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Unknown g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Unknown g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Unknown g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Unknown g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Both (homozygous) g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Unknown g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Unknown g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Unknown g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Unknown g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Both (homozygous) g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Unknown g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Both (homozygous) g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Unknown g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Both (homozygous) g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Unknown g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.108-35C>T r.(=) 35 intron p.(=) - 108 Unknown g.33778226G>A - A3GALT2_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.146C>T r.(?) - missense p.(Ser49Leu) - 146 Unknown g.33778153G>A - A3GALT2_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.197+39C>T r.(=) 39 intron p.(=) - 197 Maternal (inferred) g.33778063G>A - A3GALT2_000003 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.197+39C>T r.(=) 39 intron p.(=) - 197 Maternal (inferred) g.33778063G>A - A3GALT2_000003 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.197+39C>T r.(=) 39 intron p.(=) - 197 Unknown g.33778063G>A - A3GALT2_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.197+39C>T r.(=) 39 intron p.(=) - 197 Unknown g.33778063G>A - A3GALT2_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.197+39C>T r.(=) 39 intron p.(=) - 197 Both (homozygous) g.33778063G>A - A3GALT2_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.197+39C>T r.(=) 39 intron p.(=) - 197 Unknown g.33778063G>A - A3GALT2_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.197+39C>T r.(=) 39 intron p.(=) - 197 Unknown g.33778063G>A - A3GALT2_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.197+39C>T r.(=) 39 intron p.(=) - 197 Unknown g.33778063G>A - A3GALT2_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.197+39C>T r.(=) 39 intron p.(=) - 197 Unknown g.33778063G>A - A3GALT2_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.315_318del r.(?) - frameshift p.(Thr106SerfsTer4) - 315 Unknown g.33777670_33777673del - A3GALT2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.591C>A r.(?) - stop-gained p.(Cys197Ter) - 591 Unknown g.33772799G>T - A3GALT2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.591C>A r.(?) - stop-gained p.(Cys197Ter) - 591 Unknown g.33772799G>T - A3GALT2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
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