Full data view for gene VAPB

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

16 entries on 1 page. Showing entries 1 - 16.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.56G>T likely benign r.(?) p.(Arg19Leu) Unknown g.56964571G>T - VAPB(NM_004738.4):c.56G>T (p.R19L) - VAPB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.56G>T VUS r.(?) p.(Arg19Leu) Unknown g.56964571G>T - VAPB(NM_004738.4):c.56G>T (p.R19L) - VAPB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212-9398A>G VUS r.(=) p.(=) Unknown g.57009735A>G - VAPB(NM_004738.4):c.289A>G (p.T97A) - VAPB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.212-5058T>G likely benign r.(=) p.(=) Unknown g.57014075T>G - VAPB(NM_004738.4):c.390T>G (p.(Asp130Glu)) - VAPB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.212-3088_212-3086del likely benign r.(=) p.(=) Unknown g.57016045_57016047del - VAPB(NM_004738.4):c.479_481delCTT (p.S160del) - VAPB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.212-3088_212-3086del likely benign r.(=) p.(=) Unknown g.57016045_57016047del - VAPB(NM_004738.4):c.479_481delCTT (p.S160del) - VAPB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.212-3088_212-3086del benign r.(=) p.(=) Unknown g.57016045_57016047del - VAPB(NM_004738.4):c.479_481delCTT (p.S160del) - VAPB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.212-3075C>T likely benign r.(=) p.(=) Unknown g.57016058C>T - VAPB(NM_004738.4):c.492C>T (p.T164=) - VAPB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212-3075C>T VUS r.(=) p.(=) Unknown g.57016058C>T - VAPB(NM_004738.4):c.492C>T (p.T164=) - VAPB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.212-3057G>A likely benign r.(=) p.(=) Unknown g.57016076G>A - VAPB(NM_004738.4):c.510G>A (p.M170I) - VAPB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.212-3057G>A likely benign r.(=) p.(=) Unknown g.57016076G>A - VAPB(NM_004738.4):c.510G>A (p.M170I) - VAPB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.212-3057G>A likely benign r.(=) p.(=) Unknown g.57016076G>A - VAPB(NM_004738.4):c.510G>A (p.M170I) - VAPB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.212-3057G>A likely benign r.(=) p.(=) Unknown g.57016076G>A - VAPB(NM_004738.4):c.510G>A (p.M170I) - VAPB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212-3017C>T VUS r.(=) p.(=) Unknown g.57016116C>T - VAPB(NM_004738.4):c.550C>T (p.R184W) - VAPB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.278A>C VUS r.(?) p.(Asn93Thr) Unknown g.57019199A>C - VAPB(NM_004738.4):c.640A>C (p.T214P) - VAPB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*38G>A VUS r.(=) p.(=) Unknown g.57019259G>A - VAPB(NM_004738.4):c.700G>A (p.V234I) - VAPB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend