Variant (rsID / SNP)
rs863223788
rs863223788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX5. Location: chromosome 12, position 114,804,117. Clinical significance in the table: Pathogenic.
Reference-table entries
TBX5Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:114804117
- Cytoband
- 12q24.21
- HGVS
- NM_181486.4(TBX5):c.835C>T (p.Arg279Ter)
- Allele change
- Nonsense_R229X
Associated conditions / phenotypes
Aortic valve disease 2|Holt-Oram syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.