Variant (rsID / SNP)

rs531947455

rs531947455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH1. Location: chromosome 9, position 98,224,149. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PTCH1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:98224149
Cytoband: 9q22.32
HGVS: NM_000264.5(PTCH1):c.2692G>A (p.Asp898Asn)
Allele change: Missense_D747N

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.