Variant (rsID / SNP)

rs202111971

rs202111971 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTCH1. Location: chromosome 9, position 98,278,972. Clinical significance in the table: Likely benign.

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Reference-table entries

PTCH1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:98278972
Cytoband: 9q22.32
HGVS: NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly)
Allele change: Missense_E44G

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.