Variant (rsID / SNP)

rs1060503667

rs1060503667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF2. Location: chromosome 22, position 30,038,259. Clinical significance in the table: Pathogenic.

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Reference-table entries

NF2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:30038259
Cytoband: 22q12.2
HGVS: NM_000268.4(NF2):c.432C>G (p.Tyr144Ter)
Allele change: Nonsense_Y144X

Associated conditions / phenotypes

Neurofibromatosis, type 2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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