Transcript #00025338

Transcript name transcript variant 1
Gene name VAPB (VAMP (vesicle-associated membrane protein)-associated protein B and C)
Chromosome 20
Transcript - NCBI ID NM_004738.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_004729.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

19 entries on 1 page. Showing entries 1 - 19.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.56G>T likely benign r.(?) p.(Arg19Leu)
?/. - c.56G>T VUS r.(?) p.(Arg19Leu)
+/? ? c.137C>T - r.(?) p.(Thr46Ile)
+/? ? c.166C>T - r.(?) p.(Pro56Ser)
?/. - c.289A>G VUS r.(?) p.(Thr97Ala)
-?/. - c.390T>G likely benign r.(?) p.(Asp130Glu)
+?/. - c.474_476del - r.(?) p.(Ser160del)
-/. - c.479_481del benign r.(?) p.(Ser160del)
-?/. - c.479_481del likely benign r.(?) p.(Ser160del)
-?/. - c.479_481del likely benign r.(?) p.(Ser160del)
-?/. - c.492C>T likely benign r.(?) p.(=)
?/. - c.492C>T VUS r.(?) p.(=)
-?/. - c.510G>A likely benign r.(?) p.(Met170Ile)
-?/. - c.510G>A likely benign r.(?) p.(Met170Ile)
-?/. - c.510G>A likely benign r.(?) p.(Met170Ile)
-?/. - c.510G>A likely benign r.(?) p.(Met170Ile)
?/. - c.550C>T VUS r.(?) p.(Arg184Trp)
?/. - c.640A>C VUS r.(?) p.(Thr214Pro)
?/. - c.700G>A VUS r.(?) p.(Val234Ile)
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