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.
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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     
+/+ _1_9_ c.0 r.0? p.0? - pathogenic (recessive) g.(?_32973495)_(32989890_?)del - complete APTX deletion - APTX_000030 - PubMed: Amouri 2004 - - Germline yes - - 0 - Rick van Minkelen
+/+ _1_9_ c.0 r.0 p.0 - pathogenic (recessive) g.32858130_33025183del g.32858132_33025185del -23729_*115366del155489 - APTX_000042 - PubMed: Yoon 2009, PubMed: van Minkelen 2015 - - Germline yes - - 0 - Rick van Minkelen
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