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Variant (rsID / SNP)

rs547954117

PTCH1

rs547954117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH1. Location: chromosome 9, position 98,229,688. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PTCH1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:98229688
Cytoband
9q22.32
HGVS
NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser)
Allele change
Missense_F606S

Associated conditions / phenotypes

Gorlin syndrome|Holoprosencephaly 7|Hereditary cancer-predisposing syndrome

Public references

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