Variant (rsID / SNP)
rs142047577
rs142047577 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB3. Location: chromosome 14, position 76,446,944. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TGFB3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:76446944
- Cytoband
- 14q24.3
- HGVS
- NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu)
- Allele change
- Missense_S98L
Associated conditions / phenotypes
Cardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|Left ventricular noncompaction|Hypertrophic cardiomyopathy|Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.