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.

3 entries on 1 page. Showing entries 1 - 3.
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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.594C>T r.(=) p.(=) Parent #1 - likely benign g.153648381C>T g.154420042C>T - - TAZ_000204 - Vrijenhoek, submitted - - Unknown ? - - 0 - DNA SEQ, SEQ-NG leukocyte - CMH - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - ? ? Netherlands white - 0 - - 1 Terry Vrijenhoek
-/. - c.594C>T r.(?) p.(Arg198=) Unknown - benign g.153648381C>T g.154420042C>T TAZ(NM_000116.3):c.594C>T (p.R198=), TAZ(NM_000116.5):c.594C>T (p.R198=) - TAZ_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.594C>T r.(?) p.(Arg198=) Unknown - likely benign g.153648381C>T g.154420042C>T TAZ(NM_000116.3):c.594C>T (p.R198=), TAZ(NM_000116.5):c.594C>T (p.R198=) - TAZ_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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