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     
+/+ 7 c.689T>G r.(?) p.(Val230Gly) - pathogenic (recessive) g.32984710A>C g.32984712A>C - - APTX_000013 - PubMed: Ferrarini 2007 - - Germline - - - 0 - Sergio Piñeiro
+/. - c.689T>G r.(?) p.(Val230Gly) - pathogenic g.32984710A>C g.32984712A>C APTX(NM_001195249.1):c.689T>G (p.V230G) - APTX_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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