Variant (rsID / SNP)

rs864622374

rs864622374 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH1. Location: chromosome 9, position 98,240,355. Clinical significance in the table: Pathogenic.

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Reference-table entries

PTCH1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 9:98240355
Cytoband: 9q22.32
HGVS: NM_000264.5(PTCH1):c.1329del (p.Ser444fs)

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.