Variant (rsID / SNP)

rs115372595

rs115372595 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GATA4. Location: chromosome 8, position 11,614,483. Clinical significance in the table: Likely benign.

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Reference-table entries

GATA4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:11614483
Cytoband: 8p23.1
HGVS: NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val)
Allele change: Missense_A140V

Associated conditions / phenotypes

Atrioventricular septal defect 4|Cardiovascular phenotype|46,XY sex reversal 3

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.