Full data view for gene ABAT

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

160 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.70+49T>C 70 r.(=) p.(=) - intron 49 Paternal (inferred) g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Paternal (inferred) g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Unknown g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Both (homozygous) g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Unknown g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Unknown g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Both (homozygous) g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Unknown g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Unknown g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Both (homozygous) g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Both (homozygous) g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Unknown g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Unknown g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Unknown g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Unknown g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Unknown g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.70+49T>C 70 r.(=) p.(=) - intron 49 Both (homozygous) g.8829715T>C - ABAT_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.129G>A 129 r.(?) p.(=) - coding-synonymous - Unknown g.8839916G>A - ABAT_000040 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Both (homozygous) g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Unknown g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Unknown g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Both (homozygous) g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Unknown g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Unknown g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Unknown g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Both (homozygous) g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Unknown g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Both (homozygous) g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Unknown g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Unknown g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Unknown g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Unknown g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Unknown g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Both (homozygous) g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Unknown g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Unknown g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Both (homozygous) g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.167A>G 167 r.(?) p.(Gln56Arg) - missense-near-splice - Both (homozygous) g.8839954A>G - ABAT_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.168+12A>G 168 r.(=) p.(=) - intron 12 Unknown g.8839967A>G - ABAT_000041 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Both (homozygous) g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Both (homozygous) g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Unknown g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Both (homozygous) g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.169-5T>C 169 r.spl? p.? - splice 5 Both (homozygous) g.8841960T>C - ABAT_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Unknown g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Unknown g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Unknown g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Unknown g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Both (homozygous) g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.448-15T>A 448 r.(=) p.(=) - intron 15 Unknown g.8858580T>A - ABAT_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.540+40C>T 540 r.(=) p.(=) - intron 40 Unknown g.8858727C>T - ABAT_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.540+40C>T 540 r.(=) p.(=) - intron 40 Unknown g.8858727C>T - ABAT_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.540+40C>T 540 r.(=) p.(=) - intron 40 Unknown g.8858727C>T - ABAT_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.540+40C>T 540 r.(=) p.(=) - intron 40 Unknown g.8858727C>T - ABAT_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.540+40C>T 540 r.(=) p.(=) - intron 40 Unknown g.8858727C>T - ABAT_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.540+40C>T 540 r.(=) p.(=) - intron 40 Unknown g.8858727C>T - ABAT_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
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