All transcript variants in gene APTX

Information The variants shown are described using the NM_175073.2 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.770G>A likely benign r.(?) p.(Ser257Asn) g.32984629C>T - APTX(NM_001195248.1):c.812G>A (p.(Ser271Asn), p.(Ser257Asn), p.(Ser217Asn), p.(Ser199Asn), p.(Ser203Asn)) - APTX_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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