Variant (rsID / SNP)

rs864622293

rs864622293 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH1. Location: chromosome 9, position 98,239,828. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PTCH1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:98239828
Cytoband: 9q22.32
HGVS: NM_000264.5(PTCH1):c.1503+1G>C
Allele change: Silent

Associated conditions / phenotypes

Gorlin syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.