All variants in the BTD gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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.98_104delinsTCC r.(?) p.(Cys33Phefs*36) - pathogenic g.15676984_15676990delinsTCC g.15635477_15635483delinsTCC 98-104del7ins3 - BTD_000109 - PubMed: Wiltink 2016 - - Germline - - - 0 - Jasper Saris
?/? 2 c.98_104delinsTCC r.(?) p.(Cys33Phefs*36) - VUS g.15676984_15676990delinsTCC g.15635477_15635483delinsTCC - - BTD_000109 - - - rs80338684 Germline - - - 0 - Jasper Saris
+/? 2 c.98_104delinsTCC r.(?) p.(Cys33Phefs*36) - pathogenic g.15676984_15676990delinsTCC g.15635477_15635483delinsTCC - - BTD_000109 - PubMed: Pomponio 1995, OMIM:var0001 - rs80338684 Germline - - - 0 - Jasper Saris
+/. - c.98_104delinsTCC r.(?) p.(Cys33PhefsTer36) - pathogenic g.15676984_15676990delinsTCC g.15635477_15635483delinsTCC BTD(NM_000060.4):c.98_104delGCGGCTGinsTCC (p.C33Ffs*36) - BTD_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.98_104delinsTCC r.(?) p.(Cys33PhefsTer36) - pathogenic g.15676984_15676990delinsTCC g.15635477_15635483delinsTCC - - BTD_000109 no variant 2nd chromosome PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
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