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)     

ClassClinical     

RNA change     

Protein     

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     
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38) g.32984710dup - 689insT - APTX_000012 - PubMed: Moreira 2001 - - Germline - - - 0 - Sergio Piñeiro
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38) g.32984710dup - 690insT - APTX_000012 - PubMed: Moreira 2001 - - Germline - - - 0 - Sergio Piñeiro
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38) g.32984710dup - 690insT - APTX_000012 - PubMed: Moreira 2001 - - Germline - - - 0 - Sergio Piñeiro
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38) g.32984710dup - 690insT - APTX_000012 - - - - Germline - - - 0 - Sergio Piñeiro
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38) g.32984710dup - 689dupT - APTX_000012 - PubMed: Date 2001 - - Germline - - - 0 - Sergio Piñeiro
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