Variant (rsID / SNP)

rs2227971

rs2227971 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH1. Location: chromosome 9, position 98,231,061. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PTCH1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:98231061
Cytoband: 9q22.32
HGVS: NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val)
Allele change: Missense_A590V

Associated conditions / phenotypes

Gorlin syndrome|Hereditary cancer-predisposing syndrome|Holoprosencephaly 7

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.