All transcript variants in gene VPS36

Information The variants shown are described using the NM_016075.2 transcript reference sequence.

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Effect     

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     
?/. - c.512A>G VUS r.(?) p.(Asp171Gly) g.53007813T>C - VPS36:NM_016075.2:c.512A>G (Asp171Gly) - VPS36_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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