All transcript variants in gene APTX

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

5 entries on 1 page. Showing entries 1 - 5.
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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.431C>A r.(?) p.(Ser144Tyr) - benign g.32987594G>T g.32987596G>T APTX(NM_001195249.1):c.431C>A (p.S144Y) - APTX_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/-? 5 c.431C>A r.(?) p.(Ser144Tyr) - likely benign g.32987594G>T g.32987596G>T - - APTX_000035 probably not pathogenic - - - Germline - - - 0 - Rick van Minkelen
-?/-? 5 c.431C>A r.(?) p.(Ser144Tyr) - likely benign g.32987594G>T g.32987596G>T - - APTX_000035 probably not pathogenic - - - Germline - - - 0 - Rick van Minkelen
-?/-? 5 c.431C>A r.(?) p.(Ser144Tyr) - likely benign g.32987594G>T g.32987596G>T - - APTX_000035 probably not pathogenic van Minkelen et al. In preparation - - Germline - - - 0 - Rick van Minkelen
-/. - c.431C>A r.(?) p.(Ser144Tyr) - benign g.32987594G>T g.32987596G>T APTX(NM_001195249.1):c.431C>A (p.S144Y) - APTX_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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