All transcript variants in gene APTX

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

2 entries on 1 page. Showing entries 1 - 2.
Legend  

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     
+/+ _1_9_ c.0 pathogenic (recessive) r.0? p.0? g.(?_32973495)_(32989890_?)del - complete APTX deletion - APTX_000030 - PubMed: Amouri 2004 - - Germline yes - - 0 - Rick van Minkelen
+/+ _1_9_ c.0 pathogenic (recessive) r.0 p.0 g.32858130_33025183del - -23729_*115366del155489 - APTX_000042 - PubMed: Yoon 2009, PubMed: van Minkelen 2015 - - Germline yes - - 0 - Rick van Minkelen
Legend