All variants in the BTD gene

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

10 entries on 1 page. Showing entries 1 - 10.
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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     
?/. - c.133G>A r.(?) p.(Gly45Arg) - VUS g.15677019G>A g.15635512G>A - - BTD_000024 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.133G>A r.(?) p.(Gly45Arg) - VUS g.15677019G>A g.15635512G>A - - BTD_000024 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/? 2 c.133G>A r.(?) p.(Gly45Arg) - VUS g.15677019G>A g.15635512G>A - - BTD_000024 - - - rs34885143 Germline - - - 0 - Jasper Saris
?/? 2 c.133G>A r.(?) p.(Gly45Arg) - VUS g.15677019G>A g.15635512G>A - - BTD_000024 - PubMed: Wiltink 2016 - rs34885143 Germline - - - 0 - Jasper Saris
+/. 2 c.133G>A r.(?) p.(Gly45Arg) - pathogenic g.15677019G>A g.15635512G>A - - BTD_000024 - PubMed: Norrgard 1999 - rs34885143 Germline - - - 0 - Jasper Saris
?/. - c.133G>A r.(?) p.(Gly45Arg) - VUS g.15677019G>A g.15635512G>A BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.3):c.73G>A (p.G25R) - BTD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.133G>A r.(?) p.(Gly45Arg) - benign g.15677019G>A g.15635512G>A BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.3):c.73G>A (p.G25R) - BTD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.133G>A r.(?) p.(Gly45Arg) - benign g.15677019G>A g.15635512G>A BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.3):c.73G>A (p.G25R) - BTD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.133G>A r.(?) p.(Gly45Arg) - likely benign g.15677019G>A g.15635512G>A BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.3):c.73G>A (p.G25R) - BTD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.133G>A r.(?) p.(Gly45Arg) - VUS g.15677019G>A g.15635512G>A - - BTD_000024 conflicting interpretations of pathogenicity; 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34885143 Germline - 19/2795 individuals - 0 - Mohammed Faruq
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