All variants in the BTD gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.364A>G r.(?) p.(Arg122Gly) - pathogenic g.15683469A>G g.15641962A>G - - BTD_000066 - PubMed: Norrgard 1999 - - Germline - - - 0 - Jasper Saris
+/+ 3 c.364A>G r.(?) p.(Arg122Gly) - pathogenic g.15683469A>G g.15641962A>G - - BTD_000066 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/. - c.364A>G r.(?) p.(Arg122Gly) - pathogenic g.15683469A>G g.15641962A>G BTD(NM_000060.4):c.364A>G (p.R122G) - BTD_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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