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.

6 entries on 1 page. Showing entries 1 - 6.
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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     
-/. 1i c.110-17C>T r.(=) p.(=) Parent #1 - benign g.153640406C>T g.154412069= - - TAZ_000021 - PubMed: Gonzalez 2005 - rs62617809 Unknown - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Gonzalez 2005 - M - - - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
-/. 1i c.110-17C>T r.= p.= Parent #1 - benign g.153640406C>T g.154412069= - - TAZ_000021 no effect on splicing {PMID:Gonzalez 2011:DB Barth Syndrome Foundation} - rs62617809 Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - Healthy/Control - {PMID:Gonzalez 2011:DB Barth Syndrome Foundation} - M - - - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
-/. 1i c.110-17C>T r.(=) p.(=) Parent #1 - benign g.153640406C>T g.154412069= - - TAZ_000021 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - rs62617809 Unknown - - - 0 - DNA SEQ - - Healthy/Control - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - 0 Barth Syndrome Foundation - 1 Johan den Dunnen
-/. - c.110-17C>T r.(=) p.(=) Unknown - benign g.153640406C>T g.154412069= DNASE1L1(NM_001009932.2):c.-609G>A, TAZ(NM_000116.3):c.110-17C>T - TAZ_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.110-17C>T r.(=) p.(=) Unknown - benign g.153640406C>T g.154412069= DNASE1L1(NM_001009932.2):c.-609G>A, TAZ(NM_000116.3):c.110-17C>T - TAZ_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.110-17C>T r.(=) p.(=) Unknown - benign g.153640406C>T g.154412069= DNASE1L1(NM_001009932.2):c.-609G>A, TAZ(NM_000116.3):c.110-17C>T - TAZ_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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