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Variant (rsID / SNP)

rs201326378

SUFU

rs201326378 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUFU. Location: chromosome 10, position 104,377,066. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SUFUUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
10:104377066
Cytoband
10q24.32
HGVS
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp)
Allele change
Missense_R393W

Associated conditions / phenotypes

Gorlin syndrome|Medulloblastoma|Hereditary cancer-predisposing syndrome|Gorlin syndrome

Public references

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