Full data view for gene TBX1

Information The variants shown are described using the NM_080647.1 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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     
-?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - likely benign g.19753444G>A g.19765921G>A TBX1(NM_080647.1):c.928G>A (p.G310S) - TBX1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - benign g.19753444G>A g.19765921G>A - - TBX1_000009 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.044 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - VUS g.19753444G>A - - - TBX1_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.928G>A r.(?) p.(Gly310Ser) Unknown - likely benign g.19753444G>A - TBX1(NM_080647.1):c.928G>A (p.G310S) - TBX1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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