All transcript variants in gene APTX

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
-?/. - c.318C>T r.(?) p.(Asn106=) - likely 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_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/-? 5 c.318C>T r.(?) p.(=) - likely benign g.32987707G>A g.32987709G>A - - APTX_000044 - PubMed: van Minkelen 2015 - - Germline - - - 0 - Rick van Minkelen
-/. - c.318C>T r.(?) p.(Asn106=) - 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 - - - - - VKGL-NL_AMC
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