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Variant (rsID / SNP)

rs34545616

SMO

rs34545616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMO. Location: chromosome 7, position 128,851,867. Clinical significance in the table: Benign/Likely benign.

Reference-table entries

SMOBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
7:128851867
Cytoband
7q32.1
HGVS
NM_005631.5(SMO):c.1939C>T (p.Pro647Ser)
Allele change
Missense_P647S

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.