Full data view for gene BTD

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 4 c.470G>A r.(?) p.(Arg157His) Parent #1 - pathogenic g.15685833G>A g.15644326G>A - - BTD_000073 - PubMed: Pomponio 1997 - - Germline - - - 0 - DNA SEQ - - biotinidase deficiency - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.470G>A r.(?) p.(Arg157His) Parent #1 - pathogenic g.15685833G>A g.15644326G>A - - BTD_000073 - PubMed: Wiltink 2016 - - Germline - - - 0 - DNA SEQ - - biotinidase deficiency - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.470G>A r.(?) p.(Arg157His) Parent #1 - pathogenic g.15685833G>A g.15644326G>A - - BTD_000073 - PubMed: Wiltink 2016 - - Germline - - - 0 - DNA SEQ - - biotinidase deficiency - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.470G>A r.(?) p.(Arg157His) Both (homozygous) - pathogenic g.15685833G>A g.15644326G>A - - BTD_000073 - PubMed: Wiltink 2016 - - Germline - - - 0 - DNA SEQ - - biotinidase deficiency - - - - - - - - 0 - - 1 Jasper Saris
+/. - c.470G>A r.(?) p.(Arg157His) Unknown - pathogenic g.15685833G>A g.15644326G>A BTD(NM_000060.4):c.470G>A (p.R157H) - BTD_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.470G>A r.(?) p.(Arg157His) Unknown - VUS g.15685833G>A g.15644326G>A BTD(NM_000060.4):c.470G>A (p.R157H) - BTD_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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