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Variant (rsID / SNP)

rs147067171

PTCH1

rs147067171 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH1. Location: chromosome 9, position 98,209,591. 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
9:98209591
Cytoband
9q22.32
HGVS
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)
Allele change
Missense_Y1165C

Associated conditions / phenotypes

Rieger anomaly|Irido-corneo-trabecular dysgenesis|Hereditary cancer-predisposing syndrome|Gorlin syndrome|Holoprosencephaly 7

Public references

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