All variants in the BTD gene

Information The variants shown are described using the NM_000060.2 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     
+/. 4 c.1052del r.(?) p.(Thr351Lysfs*12) - pathogenic g.15686415del g.15644908del - - BTD_000002 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
+/. 4 c.1052del r.(?) p.(Thr351Lysfs*12) - pathogenic g.15686415del g.15644908del - - BTD_000002 - PubMed: Wolf 2002 - - Germline - - - 0 - Jasper Saris
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