All transcript variants in gene APTX

Information The variants shown are described using the NM_175073.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend  

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.211G>T likely benign r.(?) p.(Val71Phe) g.32987814C>A - APTX(NM_175073.2):c.211G>T (p.V71F) - APTX_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/-? 5 c.211G>T likely benign r.(?) p.(Val71Phe) g.32987814C>A - - - APTX_000036 - PubMed: van Minkelen 2015 - - Germline - - - 0 - Rick van Minkelen
Legend