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.

15 entries on 1 page. Showing entries 1 - 15.
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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     
+/. 8 c.646G>A r.(?) p.Gly216Arg Unknown - NA g.153648433G>A g.154420094G>A - - TAZ_000025 functional analysis yeast; y.Gly230Arg, MLCL raised, aberrant assembly PubMed: Claypool 2011, PubMed: Whited 2013 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8 c.646G>A r.spl p.(?) Parent #1 - pathogenic g.153648433G>A g.154420094G>A - - TAZ_000025 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 8 c.646G>A r.spl p.(?) Parent #1 - pathogenic g.153648433G>A g.154420094G>A - - TAZ_000025 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 8 c.646G>A r.spl p.(?) Parent #1 - pathogenic g.153648433G>A g.154420094G>A - - TAZ_000025 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 8 c.646G>A r.spl p.(?) Parent #1 - pathogenic g.153648433G>A g.154420094G>A - - TAZ_000025 - PubMed: D'Adamo 1997 - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - PubMed: D'Adamo 1997 - M - - - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 8 c.646G>A r.spl p.(?) Parent #1 - pathogenic g.153648433G>A g.154420094G>A - - TAZ_000025 CL 6 PubMed: D'Adamo 1997, PubMed: Kuijpers 2004 - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - PubMed: D'Adamo 1997, PubMed: Kuijpers 2004 - M - - - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 8 c.646G>A r.spl p.(?) Parent #1 - pathogenic g.153648433G>A g.154420094G>A - - TAZ_000025 - DB Barth Syndrome Foundation Bowles (Houston, USA) - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation Bowles (Houston, USA) - M - United States - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 8 c.646G>A r.(?) p.(Gly216Arg) Parent #1 - pathogenic g.153648433G>A g.154420094G>A - - TAZ_000025 de novo from mother; 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
+/. 8 c.646G>A r.spl p.(?) Parent #1 - pathogenic g.153648433G>A g.154420094G>A - - TAZ_000025 - PubMed: Takeda 2011 - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - PubMed: Takeda 2011 - M - - - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 8 c.646G>A r.spl p.(?) Parent #1 - pathogenic g.153648433G>A g.154420094G>A - - TAZ_000025 CL6/MLCL5 PubMed: Karkucinska-Wieckowska 2013 - - Germline - - - 0 - DNA SEQ - - BTHS;MGCA2 - PubMed: Karkucinska-Wieckowska 2013 - M - - - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 8 c.646G>A r.spl p.(?) Parent #1 - pathogenic g.153648433G>A g.154420094G>A - - TAZ_000025 - DB Barth Syndrome Foundation AKrentz (Prevention Genetics, USA) - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation AKrentz (Prevention Genetics, USA) - M - United States - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 8 c.646G>A r.(?) p.(Gly216Arg) Parent #1 - pathogenic g.153648433G>A g.154420094G>A - - TAZ_000025 CL6/MLCL5 PubMed: Rigaud 2013 - - Germline - - - 0 - DNA SEQ - - BTHS;MGCA2 - PubMed: Rigaud 2013 3-generation family, 3 affecteds/carrier mother M - Tunisia - - 0 Barth Syndrome Foundation - 3 Johan den Dunnen
+/. 8 c.646G>A r.spl p.(?) Parent #1 - pathogenic g.153648433G>A g.154420094G>A - - TAZ_000025 - PubMed: Folsi 2014 - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - PubMed: Folsi 2014 - M - - - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. - c.646G>A r.(?) p.(Gly216Arg) Unknown - pathogenic g.153648433G>A g.154420094G>A TAZ(NM_000116.3):c.646G>A (p.G216R) - TAZ_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.646G>A r.(?) p.(Gly216Arg) Unknown - pathogenic g.153648433G>A g.154420094G>A TAZ(NM_000116.3):c.646G>A (p.G216R) - TAZ_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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