Variant (rsID / SNP)
rs864622212
rs864622212 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH1. Location: chromosome 9, position 98,268,824. Clinical significance in the table: Pathogenic.
Reference-table entries
PTCH1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Microsatellite
- Chromosome / position
- 9:98268824
- Cytoband
- 9q22.32
- HGVS
- NM_000264.5(PTCH1):c.258_259del (p.Leu87fs)
Associated conditions / phenotypes
Gorlin syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.