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.
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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.543+30A>C benign r.(=) p.(=) g.32985939T>G - APTX(NM_175073.2):c.543+30A>C - APTX_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/- 6i c.543+30A>C benign r.(?) p.? g.32985939T>G - - - APTX_000034 - - - - Germline - - - 0 - Rick van Minkelen
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