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)     

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     
+/? 8 c.800A>G pathogenic (recessive) r.(?) p.(Asp267Gly) g.32974530T>C - - - APTX_000019 - PubMed: Le Ber 2003 - - Germline - - - 0 - Sergio Piñeiro
+/? 8 c.800A>G pathogenic (recessive) r.(?) p.(Asp267Gly) g.32974530T>C - - - APTX_000019 - PubMed: Le Ber 2003 - - Germline - - - 0 - Sergio Piñeiro
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