Full data view for gene BTD

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

73 entries on 1 page. Showing entries 1 - 73.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.1330G>C - r.(?) p.(Asp444His) Unknown g.15686693G>C - - - BTD_000021 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.1330G>C - r.(?) p.(Asp444His) Unknown g.15686693G>C - - - BTD_000021 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.1330G>C - r.(?) p.(Asp444His) Unknown g.15686693G>C - - - BTD_000021 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.1330G>C - r.(?) p.(Asp444His) Unknown g.15686693G>C - - - BTD_000021 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.1330G>C - r.(?) p.(Asp444His) Unknown g.15686693G>C - - - BTD_000021 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.1330G>C - r.(?) p.(Asp444His) Unknown g.15686693G>C - - - BTD_000021 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Unknown g.15686693G>C - - - BTD_000021 - - - rs13078881 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Norrgard 1997 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #1 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Parent #2 g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - PubMed: Wiltink 2016 - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Both (homozygous) g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/+ 4 c.1330G>C - r.(?) p.(Asp444His) Both (homozygous) g.15686693G>C - - - BTD_000021 - PubMed: Wiltink 2016 - rs13078881 Germline - - - 0 - DNA SEQ - - deficiency, biotinidase - - - - - - - - 0 - - 1 Jasper Saris
+/. 4 c.1330G>C pathogenic (recessive) r.(?) p.(Asp444His) Both (homozygous) g.15686693G>C - - - BTD_000021 - - - rs13078881 Germline yes - - 0 - DNA SEQ-NG-I - gene panel ClearSeq Inherited Disease (Agilent Technologies) epilepsy - 2-generation family, 2 affected - M no Czech Republic white >09y 0 - antiepileptic drug therapy 2 Marketa Wayhelova
+/. 4 c.1330G>C pathogenic (recessive) r.(?) p.(Asp444His) Both (homozygous) g.15686693G>C - - - BTD_000021 - - - rs13078881 Germline yes - - 0 - DNA SEQ-NG-I - gene panel ClearSeq Inherited Disease (Agilent Technologies) epilepsy - - brother of 00274290 M no Czech Republic white >02y 0 - antiepileptic drug therapy 1 Marketa Wayhelova
+?/. - c.1330G>C - r.(?) p.(Asp444His) Unknown g.15686693G>C g.15645186G>C - - BTD_000021 182 heterozygous, 7 homozygous; Clinindb (India) Faruq 2020, submtted - rs13078881 Germline - 189/2605 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 189 Mohammed Faruq
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