Full data view for gene BTD

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

84 entries on 1 page. Showing entries 1 - 84.
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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.1330G>C r.(?) p.(Asp444His) Unknown - VUS g.15686693G>C g.15645186G>C - - BTD_000021 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1330G>C r.(?) p.(Asp444His) Unknown - VUS g.15686693G>C g.15645186G>C - - BTD_000021 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1330G>C r.(?) p.(Asp444His) Unknown - VUS g.15686693G>C g.15645186G>C - - BTD_000021 - - - - Germline - - - - - DNA SEQ-NG - - GA1 - PubMed: Bell 2011 Coriell sample - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1330G>C r.(?) p.(Asp444His) Unknown - VUS g.15686693G>C g.15645186G>C - - BTD_000021 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1330G>C r.(?) p.(Asp444His) Unknown - VUS g.15686693G>C g.15645186G>C - - BTD_000021 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1330G>C r.(?) p.(Asp444His) Unknown - VUS g.15686693G>C g.15645186G>C - - BTD_000021 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Unknown - VUS g.15686693G>C g.15645186G>C - - BTD_000021 - - - rs13078881 Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Norrgard 1997 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - PubMed: Wiltink 2016 - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Both (homozygous) - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/+ 4 c.1330G>C r.(?) p.(Asp444His) Both (homozygous) - pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - - - DNA SEQ - - biotinidase deficiency - - - - - - - - - - - 1 Jasper Saris
+/. - c.1330G>C r.(?) p.(Asp444His) Unknown - pathogenic g.15686693G>C g.15645186G>C BTD(NM_000060.2):c.1330G>C (p.(Asp444His)), BTD(NM_000060.4):c.1330G>C (p.D444H), BTD(NM_001281723.3):c.1270G>C (p.D424H), BTD(NM_001281723.4):c.12... - BTD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1330G>C r.(?) p.(Asp444His) Unknown - pathogenic g.15686693G>C g.15645186G>C BTD(NM_000060.2):c.1330G>C (p.(Asp444His)), BTD(NM_000060.4):c.1330G>C (p.D444H), BTD(NM_001281723.3):c.1270G>C (p.D424H), BTD(NM_001281723.4):c.12... - BTD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1330G>C r.(?) p.(Asp444His) Unknown - pathogenic g.15686693G>C g.15645186G>C BTD(NM_000060.2):c.1330G>C (p.(Asp444His)), BTD(NM_000060.4):c.1330G>C (p.D444H), BTD(NM_001281723.3):c.1270G>C (p.D424H), BTD(NM_001281723.4):c.12... - BTD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.1330G>C r.(?) p.(Asp444His) Both (homozygous) - pathogenic (recessive) g.15686693G>C g.15645186G>C - - BTD_000021 - - - rs13078881 Germline yes - - - - DNA SEQ-NG-I - gene panel ClearSeq Inherited Disease (Agilent Technologies) epilepsy - PubMed: Wayhelova 2020, Journal: Wayhelova 2020 2-generation family, 2 affected, unaffected carrier mother M no Czech Republic white >09y - - antiepileptic drug therapy 2 Marketa Wayhelova
+/. 4 c.1330G>C r.(?) p.(Asp444His) Both (homozygous) - pathogenic (recessive) g.15686693G>C g.15645186G>C - - BTD_000021 - - - rs13078881 Germline yes - - - - DNA SEQ-NG-I - gene panel ClearSeq Inherited Disease (Agilent Technologies) epilepsy brother PubMed: Wayhelova 2020, Journal: Wayhelova 2020 brother of 00274290 M no Czech Republic white >02y - - antiepileptic drug therapy 1 Marketa Wayhelova
+?/. - c.1330G>C r.(?) p.(Asp444His) Parent #1 - likely pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 182 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs13078881 Germline - 182/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 182 Mohammed Faruq
+?/. - c.1330G>C r.(?) p.(Asp444His) Both (homozygous) - likely pathogenic g.15686693G>C g.15645186G>C - - BTD_000021 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs13078881 Germline - 7/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
+/. - c.1330G>C r.(?) p.(Asp444His) Unknown - pathogenic g.15686693G>C - BTD(NM_000060.2):c.1330G>C (p.(Asp444His)), BTD(NM_000060.4):c.1330G>C (p.D444H), BTD(NM_001281723.3):c.1270G>C (p.D424H), BTD(NM_001281723.4):c.12... - BTD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1330G>C r.(?) p.(Asp444His) Unknown - pathogenic g.15686693G>C - BTD(NM_000060.2):c.1330G>C (p.(Asp444His)), BTD(NM_000060.4):c.1330G>C (p.D444H), BTD(NM_001281723.3):c.1270G>C (p.D424H), BTD(NM_001281723.4):c.12... - BTD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.1330G>C r.(?) p.(Asp444His) Both (homozygous) ACMG pathogenic (recessive) g.15686693G>C g.15645186G>C 1270G>C Asp424His - BTD_000021 - - ClinVar-1900 rs13078881 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing biotinidase deficiency 3bINP-011 PubMed: Vela-Amieva 2024 - M no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 4 c.1330G>C r.(?) p.(Asp444His) Parent #1 ACMG pathogenic (recessive) g.15686693G>C g.15645186G>C 1270G>C (Asp424His) - BTD_000021 Latif 2024:38592052, Pietzner 2021:34648354, Funghini 2020:33312878 - ClinVar-1900 rs13078881 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing biotinidase deficiency 3bINP-053 PubMed: Vela-Amieva 2024 - M no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 4 c.1330G>C r.(?) p.(Asp444His) Parent #2 ACMG pathogenic (recessive) g.15686693G>C g.15645186G>C 1270G>C (Asp424His) - BTD_000021 XLatif 2024:38592052, Pietzner 2021:34648354, Funghini 2020:33312878 - ClinVar-1900 rs13078881 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing biotinidase deficiency 3bINP-054 PubMed: Vela-Amieva 2024 Familial case (brother effected). Co-occurrence of two different monogenic diseases M no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. - c.1330G>C r.(?) p.(Asp444His) Unknown - pathogenic g.15686693G>C - BTD(NM_000060.2):c.1330G>C (p.(Asp444His)), BTD(NM_000060.4):c.1330G>C (p.D444H), BTD(NM_001281723.3):c.1270G>C (p.D424H), BTD(NM_001281723.4):c.12... - BTD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1330G>C r.(?) p.(Asp444His) Paternal (confirmed) - pathogenic (recessive) g.15686693G>C g.15645186G>C - - BTD_000021 - - - - Germline - - - - - RNA SEQ-NG - - biotinidase deficiency - - - F no Romania - - - - biotin 1 Maria-Pilar Lopez-Garrido
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