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)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.484-25_484-6del VUS r.(=) p.(=) Unknown g.32986041_32986060del - APTX(NM_001195248.1):c.526-25_526-6del (p.(=)) - APTX_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 5i c.484-25_484-6del benign r.(?) p.? Maternal (confirmed) g.32986034_32986053del - 484-31_484-12del20 - APTX_000027 - PubMed: Moreira 2001 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Moreira 2001 2-generation family, unaffected parents - - Portugal Portuguese - 0 - - 1 Sergio Piñeiro
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