Variant (rsID / SNP)

rs200366479

rs200366479 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH2. Location: chromosome 1, position 45,296,630. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PTCH2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:45296630
Cytoband: 1p34.1
HGVS: NM_003738.5(PTCH2):c.703C>T (p.Arg235Trp)
Allele change: Missense_R235W

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.