Unique variants in gene VAPB

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

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-?/., ?/. 2 - c.56G>T likely benign, VUS r.(?) p.(Arg19Leu) g.56964571G>T - VAPB(NM_004738.4):c.56G>T (p.R19L) - VAPB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.212-9398A>G VUS r.(=) p.(=) g.57009735A>G - VAPB(NM_004738.4):c.289A>G (p.T97A) - VAPB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.212-5058T>G likely benign r.(=) p.(=) g.57014075T>G - VAPB(NM_004738.4):c.390T>G (p.(Asp130Glu)) - VAPB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 3 - c.212-3088_212-3086del benign, likely benign r.(=) p.(=) g.57016045_57016047del - VAPB(NM_004738.4):c.479_481delCTT (p.S160del) - VAPB_000002, VAPB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/., ?/. 2 - c.212-3075C>T likely benign, VUS r.(=) p.(=) g.57016058C>T - VAPB(NM_004738.4):c.492C>T (p.T164=) - VAPB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
-?/. 4 - c.212-3057G>A likely benign r.(=) p.(=) g.57016076G>A - VAPB(NM_004738.4):c.510G>A (p.M170I) - VAPB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.212-3017C>T VUS r.(=) p.(=) g.57016116C>T - VAPB(NM_004738.4):c.550C>T (p.R184W) - VAPB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.278A>C VUS r.(?) p.(Asn93Thr) g.57019199A>C - VAPB(NM_004738.4):c.640A>C (p.T214P) - VAPB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*38G>A VUS r.(=) p.(=) g.57019259G>A - VAPB(NM_004738.4):c.700G>A (p.V234I) - VAPB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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