Unique variants in the CSTB gene

Information The variants shown are described using the NM_000100.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

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     
+/+ 1 2 c.149G>A r.149g>a p.Gly50Glu - pathogenic g.45194558C>T g.43774677C>T - - CSTB_000009 1 ULD patient: Finnish PubMed: Joensuu et al. 2007 - rs312262708 SUMMARY record - - - - - Anne Polvi
+?/+? 1 3 c.202C>T r.(202c>u) p.(Arg68*) - likely pathogenic g.45194178G>A g.43774297G>A CGA>TGA; stop codon at R68 - CSTB_000005 3 ULD patients: 2 Finnish and 1 Dutch PubMed: Pennacchio al. 1996, PubMed: Lafrenière al. 1997, PubMed: de Haan et al. 2004 - - SUMMARY record - - - - - Anne Polvi
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