Full data view for gene A4GNT

Information The variants shown are described using the NM_016161.2 transcript reference sequence.

112 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.96T>C 96 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.96T>C 96 r.(?) p.(=) - coding-synonymous - Unknown g.137850003A>G - A4GNT_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.211G>A 211 r.(?) p.(Val71Ile) - missense - Unknown g.137849888C>T - A4GNT_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.211G>A 211 r.(?) p.(Val71Ile) - missense - Unknown g.137849888C>T - A4GNT_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.211G>A 211 r.(?) p.(Val71Ile) - missense - Unknown g.137849888C>T - A4GNT_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Both (homozygous) g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Both (homozygous) g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Both (homozygous) g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Both (homozygous) g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Both (homozygous) g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Both (homozygous) g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Both (homozygous) g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Both (homozygous) g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Both (homozygous) g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Both (homozygous) g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Unknown g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.653C>A 653 r.(?) p.(Ala218Asp) - missense - Both (homozygous) g.137843476G>T - A4GNT_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.796C>T 796 r.(?) p.(Arg266Ter) - stop-gained - Unknown g.137843333G>A - A4GNT_000006 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Unknown g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Unknown g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Unknown g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Unknown g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Unknown g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Unknown g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Unknown g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1023A>G 1023 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.137843106T>C - A4GNT_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*12G>A 1035 r.(=) p.(=) - utr-3 - Paternal (inferred) g.137843094C>T - A4GNT_000005 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.*12G>A 1035 r.(=) p.(=) - utr-3 - Unknown g.137843094C>T - A4GNT_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*12G>A 1035 r.(=) p.(=) - utr-3 - Unknown g.137843094C>T - A4GNT_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*12G>A 1035 r.(=) p.(=) - utr-3 - Unknown g.137843094C>T - A4GNT_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Both (homozygous) g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Unknown g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Both (homozygous) g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Unknown g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Unknown g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Both (homozygous) g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Unknown g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Unknown g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Unknown g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Unknown g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Unknown g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Unknown g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Both (homozygous) g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Unknown g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*88C>G 1111 r.(=) p.(=) - utr-3 - Both (homozygous) g.137843018G>C - A4GNT_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
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