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     
+/+ 2 c.100G>A r.(?) p.(Gly34Ser) - pathogenic g.15676986G>A g.15635479G>A - - BTD_000123 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
+/. - c.100G>A r.(?) p.(Gly34Ser) - pathogenic g.15676986G>A g.15635479G>A BTD(NM_000060.4):c.100G>A (p.G34S) - BTD_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.100G>A r.(?) p.(Gly34Ser) - likely pathogenic (recessive) g.15676986G>A g.15635479G>A NM_001281723.1:c.106G>A (Gly36Ser) - BTD_000123 ACMG PM1, PM2, PP2, BP4, PM3, PP4 PubMed: Schuermans 2022 - - Germline - - - 0 - Johan den Dunnen
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