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     
+/. 8i c.875-1G>A r.spl p.? - pathogenic (recessive) g.32973651C>T g.32973653C>T - - APTX_000085 - PubMed: Amouri 2004 - - Germline yes - - 0 - Johan den Dunnen
+/. 8i c.875-1G>A r.spl p.? - pathogenic (recessive) g.32973651C>T g.32973653C>T - - APTX_000085 - PubMed: Amouri 2004 - - Germline yes - - 0 - Johan den Dunnen
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