Variant (rsID / SNP)
rs786204039
rs786204039 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX6. Location: chromosome 16, position 30,097,606. Clinical significance in the table: Pathogenic.
Reference-table entries
TBX6Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 16:30097606
- Cytoband
- 16p11.2
- HGVS
- NM_004608.4(TBX6):c.1250dup (p.Leu419fs)
Associated conditions / phenotypes
Spondylocostal dysostosis 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.