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.125G>T VUS r.(?) p.(Arg42Leu) g.32989765C>A - APTX(NM_175073.2):c.125G>T (p.R42L) - APTX_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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