Full data view for gene TAZ

The variants collected by the Barth Syndrome Foundation were used to initiate this database
Information The variants shown are described using the NM_000116.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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     
+/. 3 c.281G>A r.(?) p.(Arg94His) Parent #1 - pathogenic g.153641586G>A g.154413249G>A - - TAZ_000042 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), PubMed: Brady 2006 - - Germline - - - 0 - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), PubMed: Brady 2006 - M - United States - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 3 c.281G>A r.(?) p.(Arg94His) Parent #1 - pathogenic g.153641586G>A g.154413249G>A - - TAZ_000042 - DB Barth Syndrome Foundation Bowles (Houston, USA) - - Unknown - - - 0 - DNA SEQ - - CM - DB Barth Syndrome Foundation Bowles (Houston, USA) - M - United States - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 3 c.281G>A r.(?) p.(Arg94His) Parent #1 - pathogenic g.153641586G>A g.154413249G>A - - TAZ_000042 - DB Barth Syndrome Foundation Pennock/Williams (Bristol, UK) - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation Pennock/Williams (Bristol, UK) - M - United Kingdom (Great Britain) - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 3 c.281G>A r.(?) p.(Arg94His) Parent #1 - pathogenic g.153641586G>A g.154413249G>A - - TAZ_000042 CL6/MLCL5 PubMed: Claypool 2011 - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - PubMed: Claypool 2011 - M - - - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 3 c.281G>A r.(?) p.(Arg94His) Parent #1 - pathogenic g.153641586G>A g.154413249G>A - - TAZ_000042 CL6/MLCL5 PubMed: Claypool 2011 - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - PubMed: Claypool 2011 - M - - - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 3 c.281G>A r.(?) p.(Arg94His) Parent #1 - pathogenic g.153641586G>A g.154413249G>A - - TAZ_000042 de novo from grandparent; CL6/MLCL5 DB Barth Syndrome Foundation MvSlegtenhorst (Rotterdam, Netherlands) - - De novo - - - 0 - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation MvSlegtenhorst (Rotterdam, Netherlands) - M - Netherlands - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 3 c.281G>A r.(?) p.(Arg94His) Parent #1 - pathogenic g.153641586G>A g.154413249G>A - - TAZ_000042 de novo from grandparent; CL6/MLCL5 DB Barth Syndrome Foundation MvSlegtenhorst (Rotterdam, Netherlands) - - De novo - - - 0 - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation MvSlegtenhorst (Rotterdam, Netherlands) - M - Netherlands - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 3 c.281G>A r.(?) p.(Arg94His) Parent #1 - pathogenic g.153641586G>A g.154413249G>A - - TAZ_000042 - DB Barth Syndrome Foundation BPerez (Madrid, Spain) - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation BPerez (Madrid, Spain) - M - Spain - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 3 c.281G>A r.(?) p.(Arg94His) Parent #1 - pathogenic g.153641586G>A g.154413249G>A - - TAZ_000042 CL6/MLCL5 PubMed: Rigaud 2013 - - De novo - - - 0 - DNA SEQ - - BTHS;MGCA2 - PubMed: Rigaud 2013 3-generation family, affected son M - France - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 3 c.281G>A r.(?) p.(Arg94His) Parent #1 - pathogenic g.153641586G>A g.154413249G>A - - TAZ_000042 - DB Barth Syndrome Foundation - reported by family - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation - reported by family - M - - - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. - c.281G>A r.(?) p.(Arg94His) Unknown - pathogenic g.153641586G>A g.154413249G>A TAZ(NM_000116.3):c.281G>A (p.R94H) - TAZ_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.281G>A r.(?) p.(Arg94His) Unknown - pathogenic g.153641586G>A g.154413249G>A TAZ(NM_000116.3):c.281G>A (p.R94H) - TAZ_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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