Variant (rsID / SNP)
rs3809627
rs3809627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX6. Location: chromosome 16, position 30,103,160. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TBX6Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:30103160
- Cytoband
- 16p11.2
- HGVS
- NM_004608.4(TBX6):c.-49+34G>T
- Allele change
- Silent
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.