Variant (rsID / SNP)
rs2277184
rs2277184 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH1. Location: chromosome 9, position 98,239,147. Clinical significance in the table: Benign.
Reference-table entries
PTCH1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:98239147
- Cytoband
- 9q22.32
- HGVS
- NM_000264.5(PTCH1):c.1504-8T>C
- Allele change
- Silent
Associated conditions / phenotypes
Holoprosencephaly 7|Gorlin syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.