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Variant (rsID / SNP)

rs145666157

NF2

rs145666157 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF2. Location: chromosome 22, position 30,070,923. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NF2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:30070923
Cytoband
22q12.2
HGVS
NM_000268.4(NF2):c.1439C>T (p.Thr480Met)
Allele change
Missense_T480M

Associated conditions / phenotypes

Neurofibromatosis, type 2|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.