All transcript variants in gene VAPB

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

21 entries on 1 page. Showing entries 1 - 21.
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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.56G>T r.(?) p.(Arg19Leu) - likely benign g.56964571G>T g.58389515G>T VAPB(NM_004738.4):c.56G>T (p.R19L) - VAPB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.56G>T r.(?) p.(Arg19Leu) - VUS g.56964571G>T g.58389515G>T VAPB(NM_004738.4):c.56G>T (p.R19L) - VAPB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? ? c.137C>T r.(?) p.(Thr46Ile) - pathogenic g.56993345C>T g.58418289C>T - - VAPB_000005 The mutant protein forms insoluble cytosolic aggregates PubMed: Chen HJ 2010; submitted through SIB; ExPASy_067964 - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.166C>T r.(?) p.(Pro56Ser) - pathogenic g.56993374C>T g.58418318C>T - - VAPB_000004 The mutant protein forms insoluble cytosolic aggregates PubMed: Nishimura 2004; Submitted through SIB; ExPASy_026743 - - Unknown - - - 0 - SIB - Livia Famiglietti
?/. - c.289A>G r.(?) p.(Thr97Ala) - VUS g.57009735A>G g.58434679A>G VAPB(NM_004738.4):c.289A>G (p.T97A) - VAPB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.390T>G r.(?) p.(Asp130Glu) - likely benign g.57014075T>G g.58439019T>G VAPB(NM_004738.4):c.390T>G (p.D130E, p.(Asp130Glu)) - VAPB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.390T>G r.(?) p.(Asp130Glu) - likely benign g.57014075T>G - VAPB(NM_004738.4):c.390T>G (p.D130E, p.(Asp130Glu)) - VAPB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - 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
-?/. - c.492C>T r.(?) p.(Thr164=) - likely benign g.57016058C>T g.58441002C>T VAPB(NM_004738.4):c.492C>T (p.T164=) - VAPB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.492C>T r.(?) p.(Thr164=) - VUS g.57016058C>T g.58441002C>T VAPB(NM_004738.4):c.492C>T (p.T164=) - VAPB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.510G>A r.(?) p.(Met170Ile) - likely benign g.57016076G>A g.58441020G>A VAPB(NM_004738.4):c.510G>A (p.M170I) - VAPB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.510G>A r.(?) p.(Met170Ile) - likely benign g.57016076G>A g.58441020G>A VAPB(NM_004738.4):c.510G>A (p.M170I) - VAPB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.510G>A r.(?) p.(Met170Ile) - likely benign g.57016076G>A g.58441020G>A VAPB(NM_004738.4):c.510G>A (p.M170I) - VAPB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.510G>A r.(?) p.(Met170Ile) - likely benign g.57016076G>A g.58441020G>A VAPB(NM_004738.4):c.510G>A (p.M170I) - VAPB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.550C>T r.(?) p.(Arg184Trp) - VUS g.57016116C>T g.58441060C>T VAPB(NM_004738.4):c.550C>T (p.R184W) - VAPB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.640A>C r.(?) p.(Thr214Pro) - VUS g.57019199A>C g.58444143A>C VAPB(NM_004738.4):c.640A>C (p.T214P) - VAPB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.667C>T r.(?) p.(Arg223Trp) - VUS g.57019226C>T g.58444170C>T - - VAPB_000013 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs144718603 Germline - 2/2795 individuals - 0 - Mohammed Faruq
?/. - c.700G>A r.(?) p.(Val234Ile) - VUS g.57019259G>A g.58444203G>A VAPB(NM_004738.4):c.700G>A (p.V234I) - VAPB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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