Variant (rsID / SNP)

rs804280

rs804280 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GATA4. Location: chromosome 8, position 11,612,698. Clinical significance in the table: Benign.

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Reference-table entries

GATA4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:11612698
Cytoband: 8p23.1
HGVS: NM_001308093.3(GATA4):c.1000+56C>A
Allele change: Silent

Associated conditions / phenotypes

Congenital heart disease|Atrioventricular septal defect 4

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.