Variant (rsID / SNP)
rs6489956
rs6489956 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX5. Location: chromosome 12, position 114,792,236. Clinical significance in the table: Benign.
Reference-table entries
TBX5Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:114792236
- Cytoband
- 12q24.21
- HGVS
- NM_181486.4(TBX5):c.*1101A>G
- Allele change
- Silent
Associated conditions / phenotypes
Holt-Oram syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.