T-Box 20

Alternative Names

  • TBX20

Associated Diseases

Atrial Septal Defect 4
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OMIM Number

606061

NCBI Gene ID

57057

Uniprot ID

Q9UMR3

Length

51,718 bases

No. of Exons

9

No. of isoforms

1

Protein Name

T-box transcription factor TBX20

Molecular Mass

49232 Da

Amino Acid Count

447

Genomic Location

chr7:35,202,430-35,254,147

Gene Map Locus
7p14.2

Description

The TBX20 gene codes for a protein that is a member of the T-Box family of proteins. The protein is a transcription factor that has been shown to play a role in fetal heart development. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001166220.1:c.363C>GLebanonChr7:35249968PathogenicPathogenicAtrial Septal Defect 4NG_015805.1:g.9132C>G; NM_001166220.1:c.363C>G; NP_001159692.1:p.Ile121Met2676071064634
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