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Gene entry

PTCH1

patched 1

Chromosome
9
Cytoband
9q22.32
Variants (rsID)
68

PTCH1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q22.32). Its official name is “patched 1”. The reference table lists 68 variants (rsID) for this gene.

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Clinically classified variants

40 reference-table entries with clinical significance.

  • rs115556836Benignsingle nucleotide variantHoloprosencephaly 7|Gorlin syndrome|Hereditary cancer-predisposing syndrome
  • rs138154222Benignsingle nucleotide variantHoloprosencephaly 7|Gorlin syndrome|Hereditary cancer-predisposing syndrome
  • rs142274954Benignsingle nucleotide variantHirschsprung disease, susceptibility to, 1|Anophthalmia-microphthalmia syndrome|Hereditary cancer-predisposing syndrome|Gorlin syndrome|Holoprosencephaly 7
  • rs145196322Benignsingle nucleotide variantGorlin syndrome|Holoprosencephaly 7|Hereditary cancer-predisposing syndrome
  • rs16909898Benignsingle nucleotide variant
  • rs1805153Benignsingle nucleotide variantGorlin syndrome|Holoprosencephaly 7|Hereditary cancer-predisposing syndrome
  • rs186008764Benignsingle nucleotide variantGorlin syndrome|Holoprosencephaly 7|Hereditary cancer-predisposing syndrome
  • rs199476092Benignsingle nucleotide variantHoloprosencephaly 7|Hereditary cancer-predisposing syndrome|Gorlin syndrome
  • rs202007968Benignsingle nucleotide variantHoloprosencephaly 7|Gorlin syndrome
  • rs2227971Benignsingle nucleotide variantGorlin syndrome|Hereditary cancer-predisposing syndrome|Holoprosencephaly 7
  • rs2277184Benignsingle nucleotide variantHoloprosencephaly 7|Gorlin syndrome
  • rs28401363Benignsingle nucleotide variantGorlin syndrome|Holoprosencephaly 7
  • rs357564Benignsingle nucleotide variantGorlin syndrome|Holoprosencephaly 7|Hereditary cancer-predisposing syndrome
  • rs374924167Benignsingle nucleotide variantGorlin syndrome|Holoprosencephaly 7|Hereditary cancer-predisposing syndrome
  • rs531947455Benignsingle nucleotide variantGorlin syndrome|Holoprosencephaly 7|Hereditary cancer-predisposing syndrome
  • rs113663584Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Gorlin syndrome|Holoprosencephaly 7
  • rs138911275Conflicting interpretationssingle nucleotide variantHoloprosencephaly 7|Holoprosencephaly sequence|Hereditary cancer-predisposing syndrome|Gorlin syndrome
  • rs143464326Conflicting interpretationssingle nucleotide variantGorlin syndrome|Holoprosencephaly 7|Hereditary cancer-predisposing syndrome
  • rs147067171Conflicting interpretationssingle nucleotide variantRieger anomaly|Irido-corneo-trabecular dysgenesis|Hereditary cancer-predisposing syndrome|Gorlin syndrome|Holoprosencephaly 7
  • rs149667902Conflicting interpretationssingle nucleotide variantGorlin syndrome|Hereditary cancer-predisposing syndrome|Holoprosencephaly 7
  • rs181192122Conflicting interpretationssingle nucleotide variantGorlin syndrome|Hereditary cancer-predisposing syndrome|Holoprosencephaly 7
  • rs187104739Conflicting interpretationssingle nucleotide variantGorlin syndrome|Hereditary cancer-predisposing syndrome|Holoprosencephaly 7
  • rs201103723Conflicting interpretationssingle nucleotide variantHoloprosencephaly 7|Gorlin syndrome|Hereditary cancer-predisposing syndrome
  • rs201118857Conflicting interpretationssingle nucleotide variantGorlin syndrome|Hereditary cancer-predisposing syndrome
  • rs201125580Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Gorlin syndrome
  • rs202052415Conflicting interpretationssingle nucleotide variantGorlin syndrome|Hereditary cancer-predisposing syndrome|Gorlin syndrome|Holoprosencephaly 7
  • rs202081420Conflicting interpretationssingle nucleotide variantGorlin syndrome|Holoprosencephaly 7
  • rs368417828Conflicting interpretationssingle nucleotide variantAnophthalmia-microphthalmia syndrome|Gorlin syndrome|Hereditary cancer-predisposing syndrome
  • rs369882883Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Gorlin syndrome
  • rs370354759Conflicting interpretationssingle nucleotide variantGorlin syndrome|Hereditary cancer-predisposing syndrome
  • rs372027952Conflicting interpretationssingle nucleotide variantGorlin syndrome|Rieger anomaly|Hereditary cancer-predisposing syndrome
  • rs386833412Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Gorlin syndrome
  • rs547954117Conflicting interpretationssingle nucleotide variantGorlin syndrome|Holoprosencephaly 7|Hereditary cancer-predisposing syndrome
  • rs56023271Conflicting interpretationssingle nucleotide variantGorlin syndrome|Holoprosencephaly 7|Hereditary cancer-predisposing syndrome
  • rs587778629Conflicting interpretationssingle nucleotide variantGorlin syndrome|Anophthalmia-microphthalmia syndrome|Hereditary cancer-predisposing syndrome
  • rs772826555Conflicting interpretationssingle nucleotide variantGorlin syndrome|Holoprosencephaly 7|Hereditary cancer-predisposing syndrome
  • rs202111971Likely benignsingle nucleotide variant
  • rs864622212PathogenicMicrosatelliteGorlin syndrome
  • rs864622293Pathogenicsingle nucleotide variantGorlin syndrome
  • rs864622374PathogenicDeletionGorlin syndrome

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.