Variant (rsID / SNP)
rs80168454
rs80168454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH2. Location: chromosome 1, position 45,297,968. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PTCH2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:45297968
- Cytoband
- 1p34.1
- HGVS
- NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro)
- Allele change
- Missense_L104P
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.