All transcript variants in gene APTX

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

1 entry on 1 page. Showing entry 1.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.692G>A r.(?) p.(Gly231Glu) - pathogenic (recessive) g.32984707C>T g.32984709C>T - - APTX_000014 - PubMed: Ito 2005 - - Germline - - - 0 - Sergio Piñeiro
Legend