Variant (rsID / SNP)
rs1057520136
rs1057520136 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX5. Location: chromosome 12, position 114,836,432. Clinical significance in the table: Pathogenic.
Reference-table entries
TBX5Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 12:114836432
- Cytoband
- 12q24.21
- HGVS
- NM_181486.4(TBX5):c.456del (p.Val153fs)
Associated conditions / phenotypes
Aortic valve disease 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.