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     
+/. _1_4i c.(?_-1)_(370+1_371-1)del r.0? p.0? Parent #1 - pathogenic g.153640180_153641905del - Ex1_Ex4del - TAZ_000000 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. DB Barth Syndrome Foundation - reported by family - - Unknown - - - - - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation - reported by family - M - - - - - Barth Syndrome Foundation - 1 Johan den Dunnen
+/. _1_4i c.(?_-1)_(370+1_371-1)del r.0? p.0? Parent #1 - pathogenic g.153640181_153641905del - Ex1_Ex4del - TAZ_000000 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. DB Barth Syndrome Foundation Harvard Partners (USA) - - Unknown - - - - - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation Harvard Partners (USA) - M - United States - - - Barth Syndrome Foundation - 1 Johan den Dunnen
+/. _1_5i c.(?_-1)_(460+1_461-1)del r.0? p.0? Parent #1 - pathogenic g.153640180_153642528del - Ex1_Ex5 del - TAZ_000000 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. DB Barth Syndrome Foundation - reported by family - - Germline - - - - - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation - reported by family - M - - - - - Barth Syndrome Foundation - 1 Johan den Dunnen
+/. _1_5i c.(?_-1)_(460+1_461-1)del r.0? p.0? Parent #1 - pathogenic g.153640180_153642528del - Ex1_Ex5 del - TAZ_000000 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. DB Barth Syndrome Foundation - reported by family - - Unknown - - - - - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation - reported by family - M - - - - - Barth Syndrome Foundation - 1 Johan den Dunnen
+/. _1_5i c.(?_-1)_(460+1_461-1)del r.0? p.0? Parent #1 - pathogenic g.153640180_153642528del - Ex1_Ex5 del - TAZ_000000 DMD c.6463C>T p.Arg2155Trp Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. DB Barth Syndrome Foundation - reported by family - - Unknown - - - - - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation - reported by family - M - - - - - Barth Syndrome Foundation - 1 Johan den Dunnen
+/. _1_5i c.(?_-1)_(460+1_461-1)del r.0? p.0? Parent #1 - pathogenic g.153640180_153642528del - Ex1_Ex5 del - TAZ_000000 ring X-chromosome with Xq28 deletion (mosaic), incl. ex1-5; CL6/MLCL5 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Rigaud 2013 - - Unknown - - - - - DNA SEQ - - BTHS;MGCA2 - PubMed: Rigaud 2013 3-generation family, affected son/carrier mother F - France - - - Barth Syndrome Foundation - 1 Johan den Dunnen
+/. _1_5i c.(?_-1)_(460+1_461-1)del r.0? p.0? Parent #1 - pathogenic g.153640180_153642528del - Ex1_Ex5 del - TAZ_000000 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. DB Barth Syndrome Foundation - reported by family - - Unknown - - - - - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation - reported by family - M - - - - - Barth Syndrome Foundation - 1 Johan den Dunnen
+/. _1_11_ c.(?_-1)_(*1_?)del r.0? p.0? Parent #1 - pathogenic g.153640180_153649344del - complete deletion - TAZ_000000 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - - Germline - - - - - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - - Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 2i_5i c.(238+1_239-1)_(460+1_461-1)del r.(del) p.? Parent #1 - pathogenic g.153641543_153642528del - Ex3_Ex5del - TAZ_000000 de novo from mother Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. DB Barth Syndrome Foundation - reported by family - - De novo - - - - - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation - reported by family - M - - - - - Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 4 c.(294delins) r.(?) p.fs Parent #1 - pathogenic g.153641828delins - 11bp indel - TAZ_000000 Variant Error [ESYNTAX]: This genomic variant has an error (char 32: expected EOF). Please fix this entry and then remove this message. DB Barth Syndrome Foundation Bowles (Houston, USA) - - Unknown - - - - - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation Bowles (Houston, USA) - M - United States - - - Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 5i_11_ c.(460+1_461-1)_(*1_?)del r.(del) p.? Parent #1 - pathogenic g.153647881_153649344del - Ex6_Ex11del - TAZ_000000 de novo from grandfather Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - - De novo - - - - - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - - Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 5i_11_ c.(460+1_461-1)_(*1_?)del r.(del) p.? Parent #1 - pathogenic g.153647881_153649344del - Ex6_Ex11del - TAZ_000000 CL6/MLCL5 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Rigaud 2013 - - Unknown - - - - - DNA SEQ - - BTHS;MGCA2 - PubMed: Rigaud 2013 3-generation family, affected son M - France - - - Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 5i_11_ c.(460+1_461-1)_(*1_?)del r.(del) p.? Parent #1 - pathogenic g.153647881_153649344del - Ex6_Ex11del - TAZ_000000 de novo from mother; CL6/MLCL5 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Rigaud 2013 - - De novo - - - - - DNA SEQ - - BTHS;MGCA2 - PubMed: Rigaud 2013 2-generation family, affected son M - France - - - Barth Syndrome Foundation - 1 Johan den Dunnen
+/. 7i_9i c.(583+1_584-1)_(699+1_700-1)del r.(del) p.? Parent #1 - pathogenic g.153648370_153648604del - Ex8_Ex9del - TAZ_000000 CL6/MLCL5 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Rigaud 2013 - - Germline - - - - - DNA SEQ - - BTHS;MGCA2 - PubMed: Rigaud 2013 3-generation family, 2 affecteds/carrier mother and sister M - France - - - Barth Syndrome Foundation - 2 Johan den Dunnen
+/. 10i_11_ c.(777+1_778-1)_(*1_?)del r.(del) p.? Parent #1 - pathogenic g.153649241_153649344del - Ex11_3'UTRdel - TAZ_000000 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - - Unknown - - - - - DNA SEQ - - BTHS;MGCA2 - DB Barth Syndrome Foundation Kiriwn/Gonzalez (Wilmington, USA) - M - United States - - - Barth Syndrome Foundation - 1 Johan den Dunnen
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