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     
-/. - c.457A>G r.(?) p.(Lys153Glu) - benign g.32987568T>C g.32987570T>C APTX(NM_001195249.1):c.457A>G (p.K153E) - APTX_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/-? 5 c.457A>G r.(?) p.(Lys153Glu) - likely benign g.32987568T>C g.32987570T>C - - APTX_000001 - PubMed: Baba 2007 - - Germline - - - 0 - Sergio Piñeiro
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