All transcript variants in gene APTX

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

4 entries on 1 page. Showing entries 1 - 4.
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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.739C>T r.(?) p.(Arg247Ter) - pathogenic g.32984660G>A g.32984662G>A APTX(NM_001195249.1):c.739C>T (p.R247*) - APTX_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 7 c.739C>T r.(?) p.(Arg247*) - pathogenic (recessive) g.32984660G>A g.32984662G>A - - APTX_000016 - PubMed: Mosesso 2005 - - Germline - - - 0 - Sergio Piñeiro
+/+ 7 c.739C>T r.(?) p.(Arg247*) - pathogenic (recessive) g.32984660G>A g.32984662G>A - - APTX_000016 - PubMed: Mosesso 2005 - - Germline - - - 0 - Rick van Minkelen
+?/-? 7 c.739C>T r.(?) p.(Arg247*) ACMG likely pathogenic g.32984660G>A g.32984662G>A - - APTX_000016 - Mosesso et al. 2005. Cell 62: 485 - rs778258042 Germline - - - 0 - Andreas Laner
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