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Variant (rsID / SNP)

rs56023271

PTCH1

rs56023271 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH1. Location: chromosome 9, position 98,209,213. 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
9:98209213
Cytoband
9q22.32
HGVS
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)
Allele change
Missense_R1291Q

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.