Variant (rsID / SNP)
rs11573590
rs11573590 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH2. Location: chromosome 1, position 45,292,173. Clinical significance in the table: Benign.
Reference-table entries
PTCH2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:45292173
- Cytoband
- 1p34.1
- HGVS
- NM_003738.5(PTCH2):c.2963C>T (p.Thr988Met)
- Allele change
- Missense_T988M
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.