Variant (rsID / SNP)
rs115099192
rs115099192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GATA4. Location: chromosome 8, position 11,615,875. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GATA4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:11615875
- Cytoband
- 8p23.1
- HGVS
- NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)
- Allele change
- Missense_P201Q
Associated conditions / phenotypes
Tetralogy of Fallot|Ventricular septal defect 1|Atrial septal defect 2|Ventricular septal defect 1|Atrioventricular septal defect 4|Atrioventricular septal defect 4|46,XY sex reversal 3|Microcephaly|Testicular anomalies with or without congenital heart disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.