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.933del r.(?) p.(Ser311Argfs*23) - pathogenic g.15686296del g.15644789del - - BTD_000105 - PubMed: Pomponio 1997 - - Germline - - - 0 - Jasper Saris
+?/. - c.933del r.(?) p.(Ser311Argfs*23) - likely pathogenic g.15686296del g.15644789del - - BTD_000150 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397514395 Germline - 1/2795 individuals - 0 - Mohammed Faruq
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