Variant (rsID / SNP)
rs878852992
rs878852992 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TWIST1. Location: chromosome 7, position 19,156,851. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TWIST1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:19156851
- Cytoband
- 7p21.1
- HGVS
- NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)
- Allele change
- Silent
Associated conditions / phenotypes
Saethre-Chotzen syndrome|TWIST1-related craniosynostosis|Robinow-Sorauf syndrome|Sweeney-Cox syndrome|Saethre-Chotzen syndrome|TWIST1-related craniosynostosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.