Full data view for gene BTD

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.133G>A r.(?) p.(Gly45Arg) Unknown - VUS g.15677019G>A g.15635512G>A - - BTD_000024 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.133G>A r.(?) p.(Gly45Arg) Unknown - VUS g.15677019G>A g.15635512G>A - - BTD_000024 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 2 c.133G>A r.(?) p.(Gly45Arg) Unknown - VUS g.15677019G>A g.15635512G>A - - BTD_000024 - - - rs34885143 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Jasper Saris
?/? 2 c.133G>A r.(?) p.(Gly45Arg) Parent #1 - VUS g.15677019G>A g.15635512G>A - - BTD_000024 - PubMed: Wiltink 2016 - rs34885143 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/. 2 c.133G>A r.(?) p.(Gly45Arg) Parent #1 - pathogenic g.15677019G>A g.15635512G>A - - BTD_000024 - PubMed: Norrgard 1999 - rs34885143 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
?/. - c.133G>A r.(?) p.(Gly45Arg) Unknown - VUS g.15677019G>A g.15635512G>A BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.2):c.139G>A (p.G47R) - BTD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.133G>A r.(?) p.(Gly45Arg) Unknown - benign g.15677019G>A g.15635512G>A BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.2):c.139G>A (p.G47R) - BTD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.133G>A r.(?) p.(Gly45Arg) Unknown - benign g.15677019G>A g.15635512G>A BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.2):c.139G>A (p.G47R) - BTD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.133G>A r.(?) p.(Gly45Arg) Unknown - likely benign g.15677019G>A g.15635512G>A BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.2):c.139G>A (p.G47R) - BTD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133G>A r.(?) p.(Gly45Arg) Parent #1 - VUS g.15677019G>A g.15635512G>A - - BTD_000024 conflicting interpretations of pathogenicity; 19 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs34885143 Germline - 19/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 19 Mohammed Faruq
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