All transcript variants in gene APTX

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

4 entries on 1 page. Showing entries 1 - 4.
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.742T>A VUS r.(?) p.(Leu248Met) g.32984657A>T - APTX(NM_001195248.1):c.784T>A (p.(Leu262Met), p.(Leu248Met), p.(Leu208Met), p.(Leu190Met), p.(Leu194Met)) - APTX_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.742T>A likely benign r.(?) p.(Leu248Met) g.32984657A>T - APTX(NM_001195248.1):c.784T>A (p.(Leu262Met), p.(Leu248Met), p.(Leu208Met), p.(Leu190Met), p.(Leu194Met)) - APTX_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/? 7 c.742T>A VUS r.(?) p.(Leu248Met) g.32984657A>T - - - APTX_000037 - PubMed: van Minkelen 2015 - - Germline - - - 0 - Rick van Minkelen
?/? 7 c.742T>A VUS r.(?) p.(Leu248Met) g.32984657A>T - - - APTX_000037 - van Minkelen et al. In preparation - - Germline - - - 0 - Rick van Minkelen
Legend