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Variant (rsID / SNP)

rs36049457

SUFU

rs36049457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUFU. Location: chromosome 10, position 104,375,086. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SUFUConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:104375086
Cytoband
10q24.32
HGVS
NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys)
Allele change
Missense_R362C

Associated conditions / phenotypes

Gorlin syndrome|Medulloblastoma|Hereditary cancer-predisposing syndrome

Public references

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