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     
+/. 4 c.968A>G r.(?) p.(His323Arg) - pathogenic g.15686331A>G g.15644824A>G - - BTD_000108 - PubMed: Swango 1998 - - Germline - - - 0 - Jasper Saris
+/+ 4 c.968A>G r.(?) p.(His323Arg) - pathogenic g.15686331A>G g.15644824A>G - - BTD_000108 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
?/. - c.968A>G r.(?) p.(His323Arg) - VUS g.15686331A>G g.15644824A>G - - BTD_000108 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397507176 Germline - 3/2793 individuals - 0 - Mohammed Faruq
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