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     
+/? 7 c.725G>A pathogenic (recessive) r.(?) p.(Ser242Asn) g.32984674C>T - - - APTX_000015 - PubMed: Baba 2007 - - Germline - - - 0 - Sergio Piñeiro
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