rs104894074

This is a variant in the GATA4 gene that changes a serine to an phenylalanine.

▶

ClinVar annotation

Pathogenic
1 submitter1 publication

Atrial septal defect 2 (ASD2)

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect
Case reportN=16Kayoko Hirayama‐Yamada et al.(2005)· American Journal of Medical Genetics Part A

Analysis of GATA4 and NKX2.5 mutations in 16 familial atrial septal defect (ASD) cases identified 5 mutations (31.3%): 2 in GATA4 (S52F, E359Xfs) and 3 in NKX2.5 (A88Xfs, R190C, T178M). Progressive atrioventricular block was strongly associated with homeodomain missense mutations or nonsense/frameshift mutations in NKX2.5, while GATA4 mutations were linked to cardiac septation defects.

Traits studied:Atrial septal defectAtrioventricular conduction disturbanceCongenital heart diseaseDextrocardiaPulmonary stenosis
PubMedDOIMetascience Observatory

About GATA4

This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

View all GATA4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…