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     
+/. 3 c.454A>C r.(?) p.(Thr152Pro) - pathogenic g.15683559A>C g.15642052A>C - - BTD_000070 - PubMed: Milankovics 2007 - - Germline - - - 0 - Jasper Saris
?/. - c.454A>C r.(?) p.(Thr152Pro) - VUS g.15683559A>C g.15642052A>C BTD(NM_000060.4):c.454A>C (p.T152P) - BTD_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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