Full data view for 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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/-? 5 c.318C>T r.(?) p.(=) Unknown - likely benign g.32987707G>A g.32987709G>A - - APTX_000044 - PubMed: van Minkelen 2015 - - Germline - - - 0 - DNA SEQ blood - EAOH 26285866-Pat53383 PubMed: van Minkelen 2015 - - - - - - 0 - - 1 Rick van Minkelen
-/. - c.318C>T r.(?) p.(Asn106=) Unknown - benign g.32987707G>A g.32987709G>A APTX(NM_001195249.1):c.318C>T (p.N106=), APTX(NM_175073.2):c.318C>T (p.N106=) - APTX_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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