Full data view for gene AATK

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

285 entries on 3 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.-2737A>G -2737 r.(=) p.(=) - utr-5 - Unknown g.79108318T>C - AATK_000036 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2737A>G -2737 r.(=) p.(=) - utr-5 - Unknown g.79108318T>C - AATK_000036 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2737A>G -2737 r.(=) p.(=) - utr-5 - Unknown g.79108318T>C - AATK_000036 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2737A>G -2737 r.(=) p.(=) - utr-5 - Unknown g.79108318T>C - AATK_000036 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2737A>G -2737 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108318T>C - AATK_000036 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2737A>G -2737 r.(=) p.(=) - utr-5 - Unknown g.79108318T>C - AATK_000036 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2737A>G -2737 r.(=) p.(=) - utr-5 - Unknown g.79108318T>C - AATK_000036 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2737A>G -2737 r.(=) p.(=) - utr-5 - Unknown g.79108318T>C - AATK_000036 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Unknown g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Unknown g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Unknown g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Unknown g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Unknown g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Both (homozygous) g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Unknown g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2560T>C -2560 r.(=) p.(=) - utr-5 - Unknown g.79108141A>G - AATK_000003 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2500T>C -2500 r.(=) p.(=) - utr-5 - Paternal (inferred) g.79108081A>G - AATK_000035 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-2500T>C -2500 r.(=) p.(=) - utr-5 - Paternal (inferred) g.79108081A>G - AATK_000035 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-2500T>C -2500 r.(=) p.(=) - utr-5 - Unknown g.79108081A>G - AATK_000035 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2500T>C -2500 r.(=) p.(=) - utr-5 - Unknown g.79108081A>G - AATK_000035 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2500T>C -2500 r.(=) p.(=) - utr-5 - Unknown g.79108081A>G - AATK_000035 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-2500T>C -2500 r.(=) p.(=) - utr-5 - Unknown g.79108081A>G - AATK_000035 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-1437del -1437 r.(=) p.(=) - utr-5 - Unknown g.79107018del - AATK_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-994G>A -994 r.(=) p.(=) - utr-5 - Paternal (inferred) g.79106575C>T - AATK_000034 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-994G>A -994 r.(=) p.(=) - utr-5 - Unknown g.79106575C>T - AATK_000034 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.-994G>A -994 r.(=) p.(=) - utr-5 - Unknown g.79106575C>T - AATK_000034 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-994G>A -994 r.(=) p.(=) - utr-5 - Unknown g.79106575C>T - AATK_000034 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-994G>A -994 r.(=) p.(=) - utr-5 - Unknown g.79106575C>T - AATK_000034 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-994G>A -994 r.(=) p.(=) - utr-5 - Unknown g.79106575C>T - AATK_000034 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Unknown g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Unknown g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Unknown g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Unknown g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Unknown g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Unknown g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Unknown g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Unknown g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-269A>G -269 r.(=) p.(=) - utr-5 - Both (homozygous) g.79105850T>C - AATK_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-253A>G -253 r.(=) p.(=) - utr-5 - Unknown g.79105834T>C - AATK_000033 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-253A>G -253 r.(=) p.(=) - utr-5 - Unknown g.79105834T>C - AATK_000033 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.26-45G>A 26 r.(=) p.(=) - intron 45 Unknown g.79102394C>T - AATK_000032 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.45A>G 45 r.(?) p.(=) - coding-synonymous - Unknown g.79102330T>C - AATK_000031 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.45A>G 45 r.(?) p.(=) - coding-synonymous - Unknown g.79102330T>C - AATK_000031 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.45A>G 45 r.(?) p.(=) - coding-synonymous - Unknown g.79102330T>C - AATK_000031 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.313-41C>A 313 r.(=) p.(=) - intron 41 Unknown g.79100401G>T - AATK_000030 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.405C>A 405 r.(?) p.(=) - coding-synonymous - Unknown g.79100268G>T - AATK_000029 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.447-33_447-25del 447 r.(=) p.(=) - intron 25 Unknown g.79098839_79098847del - AATK_000028 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.447-33_447-25del 447 r.(=) p.(=) - intron 25 Unknown g.79098839_79098847del - AATK_000028 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.447-33_447-25del 447 r.(=) p.(=) - intron 25 Both (homozygous) g.79098839_79098847del - AATK_000028 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.447-33_447-25del 447 r.(=) p.(=) - intron 25 Unknown g.79098839_79098847del - AATK_000028 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.447-33_447-25del 447 r.(=) p.(=) - intron 25 Unknown g.79098839_79098847del - AATK_000028 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.447-33_447-25del 447 r.(=) p.(=) - intron 25 Both (homozygous) g.79098839_79098847del - AATK_000028 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.447-33_447-25del 447 r.(=) p.(=) - intron 25 Both (homozygous) g.79098839_79098847del - AATK_000028 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.447-33_447-25del 447 r.(=) p.(=) - intron 25 Unknown g.79098839_79098847del - AATK_000028 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.447-33_447-25del 447 r.(=) p.(=) - intron 25 Both (homozygous) g.79098839_79098847del - AATK_000028 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.447-33_447-25del 447 r.(=) p.(=) - intron 25 Both (homozygous) g.79098839_79098847del - AATK_000028 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.447-33_447-25del 447 r.(=) p.(=) - intron 25 Both (homozygous) g.79098839_79098847del - AATK_000028 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
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