Full data view for gene AATF

Information The variants shown are described using the NM_012138.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.293T>C 293 r.(?) p.(Ile98Thr) - missense - Unknown g.35310195T>C - AATF_000004 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.520G>A 520 r.(?) p.(Glu174Lys) - missense - Unknown g.35310422G>A - AATF_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.520G>A 520 r.(?) p.(Glu174Lys) - missense - Unknown g.35310422G>A - AATF_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.694+35A>C 694 r.(=) p.(=) - intron 35 Maternal (inferred) g.35310631A>C - AATF_000006 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.694+35A>C 694 r.(=) p.(=) - intron 35 Maternal (inferred) g.35310631A>C - AATF_000006 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.694+35A>C 694 r.(=) p.(=) - intron 35 Unknown g.35310631A>C - AATF_000006 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.694+35A>C 694 r.(=) p.(=) - intron 35 Unknown g.35310631A>C - AATF_000006 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.694+35A>C 694 r.(=) p.(=) - intron 35 Unknown g.35310631A>C - AATF_000006 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1245T>C 1245 r.(?) p.(=) - coding-synonymous - Unknown g.35346641T>C - AATF_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1245T>C 1245 r.(?) p.(=) - coding-synonymous - Unknown g.35346641T>C - AATF_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1245T>C 1245 r.(?) p.(=) - coding-synonymous - Unknown g.35346641T>C - AATF_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1245T>C 1245 r.(?) p.(=) - coding-synonymous - Unknown g.35346641T>C - AATF_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1245T>C 1245 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.35346641T>C - AATF_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1245T>C 1245 r.(?) p.(=) - coding-synonymous - Unknown g.35346641T>C - AATF_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1245T>C 1245 r.(?) p.(=) - coding-synonymous - Unknown g.35346641T>C - AATF_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1245T>C 1245 r.(?) p.(=) - coding-synonymous - Unknown g.35346641T>C - AATF_000007 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1314+18C>G 1314 r.(=) p.(=) - intron 18 Unknown g.35346728C>G - AATF_000008 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1446C>T 1446 r.(?) p.(=) - coding-synonymous - Unknown g.35376351C>T - AATF_000009 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1466+39A>G 1466 r.(=) p.(=) - intron 39 Paternal (inferred) g.35376410A>G - AATF_000010 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.1466+39A>G 1466 r.(=) p.(=) - intron 39 Unknown g.35376410A>G - AATF_000010 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1467-16C>A 1467 r.(=) p.(=) - intron 16 Unknown g.35378217C>A - AATF_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1467-16C>A 1467 r.(=) p.(=) - intron 16 Unknown g.35378217C>A - AATF_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1467-16C>A 1467 r.(=) p.(=) - intron 16 Unknown g.35378217C>A - AATF_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1467-16C>A 1467 r.(=) p.(=) - intron 16 Unknown g.35378217C>A - AATF_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*42C>T 1725 r.(=) p.(=) - utr-3 - Unknown g.35414006C>T - AATF_000012 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*42C>T 1725 r.(=) p.(=) - utr-3 - Unknown g.35414006C>T - AATF_000012 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*42C>T 1725 r.(=) p.(=) - utr-3 - Both (homozygous) g.35414006C>T - AATF_000012 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*42C>T 1725 r.(=) p.(=) - utr-3 - Unknown g.35414006C>T - AATF_000012 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.*42C>T 1725 r.(=) p.(=) - utr-3 - Unknown g.35414006C>T - AATF_000012 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
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