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.

9 entries on 1 page. Showing entries 1 - 9.
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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.280C>T r.(?) p.Arg94Cys Unknown - NA g.153641585C>T g.154413248C>T - - TAZ_000007 functional analysis yeast; y.Arg102Cys, MLCL raised, catalytically null PubMed: Claypool 2011, PubMed: Whited 2013 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.280C>T r.280c>u p.Arg94Cys Parent #1 - pathogenic g.153641585C>T g.154413248C>T - - TAZ_000007 de novo from grandfather, seen in mRNA; CL6/MLCL5 PubMed: Johnston 1997, PubMed: Gonzalez 2005 - - De novo - - - 0 - DNA, RNA RT-PCR, SEQ - - BTHS;MGCA2 - PubMed: Johnston 1997, PubMed: Gonzalez 2005 - M - - - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 3 c.280C>T r.(?) p.(Arg94Cys) Parent #1 - pathogenic g.153641585C>T g.154413248C>T - - TAZ_000007 - 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
+/. 3 c.280C>T r.(?) p.(Arg94Cys) Parent #1 - pathogenic g.153641585C>T g.154413248C>T - - TAZ_000007 - {PMID:Steward 2011:DB Barth Syndrome Foundation} - - Germline - - - 0 - DNA SEQ - - BTHS;MGCA2 - {PMID:Steward 2011:DB Barth Syndrome Foundation} - M - - - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 3 c.280C>T r.(?) p.(Arg94Cys) Parent #1 - pathogenic g.153641585C>T g.154413248C>T - - TAZ_000007 - DB Barth Syndrome Foundation Honeychurch/Williams (Bristol, UK) - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation Honeychurch/Williams (Bristol, UK) - M - United Kingdom (Great Britain) - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 3 c.280C>T r.280c>u p.Arg94Cys Parent #1 - pathogenic g.153641585C>T g.154413248C>T - - TAZ_000007 CL6/MLCL5 DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), PubMed: Kirwin 2014 - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA), PubMed: Kirwin 2014 - M - United States - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 3 c.280C>T r.(?) p.(Arg94Cys) Parent #1 - pathogenic g.153641585C>T g.154413248C>T - - TAZ_000007 - PubMed: Sabater-Molina 2013 - - Germline - - - 0 - DNA SEQ - - BTHS;MGCA2 - PubMed: Sabater-Molina 2013 - M - - - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 3 c.280C>T r.(?) p.(Arg94Cys) Parent #1 - pathogenic g.153641585C>T g.154413248C>T - - TAZ_000007 - PubMed: Mazurova 2013 - - Unknown - - - 0 - DNA SEQ - - BTHS;MGCA2 - PubMed: Mazurova 2013 - M - - - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
+?/. - c.280C>T r.(?) p.(Arg94Cys) Unknown - likely pathogenic g.153641585C>T g.154413248C>T TAZ(NM_000116.5):c.280C>T (p.R94C) - TAZ_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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