All variants in the BTD gene

Information The variants shown are described using the NM_000060.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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     
+/. 4 c.631C>T r.(?) p.(Arg211Cys) - pathogenic g.15685994C>T g.15644487C>T - - BTD_000088 - PubMed: Norrgard 1999 - - Germline - - - 0 - Jasper Saris
+/+ 4 c.631C>T r.(?) p.(Arg211Cys) - pathogenic g.15685994C>T g.15644487C>T - - BTD_000088 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/+ 4 c.631C>T r.(?) p.(Arg211Cys) - pathogenic g.15685994C>T g.15644487C>T - - BTD_000088 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/. - c.631C>T r.(?) p.(Arg211Cys) - pathogenic g.15685994C>T g.15644487C>T BTD(NM_000060.4):c.631C>T (p.R211C) - BTD_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
Legend   How to query