Variant (rsID / SNP)

rs139624405

rs139624405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH2. Location: chromosome 1, position 45,295,296. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PTCH2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:45295296
Cytoband: 1p34.1
HGVS: NM_003738.5(PTCH2):c.1073G>A (p.Arg358His)
Allele change: Missense_R358H

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.