Variant (rsID / SNP)
rs121918348
rs121918348 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMO. Location: chromosome 7, position 128,850,838. Clinical significance in the table: Pathogenic.
Reference-table entries
SMOPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:128850838
- Cytoband
- 7q32.1
- HGVS
- NM_005631.5(SMO):c.1685G>A (p.Arg562Gln)
- Allele change
- Missense_R562Q
Associated conditions / phenotypes
Basal cell carcinoma, somatic
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.