All transcript variants in gene APTX

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

3 entries on 1 page. Showing entries 1 - 3.
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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.593C>T pathogenic r.(?) p.(Ala198Val) g.32984806G>A - APTX(NM_175073.2):c.593C>T (p.A198V) - APTX_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/+ 7 c.593C>T pathogenic (recessive) r.(?) p.(Ala198Val) g.32984806G>A - - - APTX_000005 - PubMed: Le Ber 2003 - - Germline - - - 0 - Sergio PiƱeiro
+/+ 7 c.593C>T pathogenic (recessive) r.(?) p.(Ala198Val) g.32984806G>A - - - APTX_000005 - PubMed: Le Ber 2003 - - Germline - - - 0 - Rick van Minkelen
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