Variant (rsID / SNP)

rs357564

rs357564 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH1. Location: chromosome 9, position 98,209,594. Clinical significance in the table: Benign.

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Reference-table entries

PTCH1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:98209594
Cytoband: 9q22.32
HGVS: NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)
Allele change: Missense_P1164L

Associated conditions / phenotypes

Gorlin syndrome|Holoprosencephaly 7|Hereditary cancer-predisposing 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.