All variants in the VAPB gene

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

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
-?/. - c.479_481del r.(?) p.(Ser160del) - likely benign g.57016045_57016047del g.58440989_58440991del VAPB(NM_004738.4):c.479_481delCTT (p.S160del) - VAPB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.479_481del r.(?) p.(Ser160del) - likely benign g.57016045_57016047del g.58440989_58440991del VAPB(NM_004738.4):c.479_481delCTT (p.S160del) - VAPB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.479_481del r.(?) p.(Ser160del) - benign g.57016045_57016047del g.58440989_58440991del VAPB(NM_004738.4):c.479_481delCTT (p.S160del) - VAPB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.479_481del r.(?) p.(Ser160del) - likely pathogenic g.57016045_57016047del g.58440989_58440991del - - VAPB_000001 - PubMed: Vadgama 2019, Journal: Vadgama 2019 - - Unknown - - - 0 - Nirmal Vadgama
Legend   How to query