Variant (rsID / SNP)

rs74315505

rs74315505 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF2. Location: chromosome 22, position 30,077,432. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NF2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:30077432
Cytoband: 22q12.2
HGVS: NM_000268.4(NF2):c.1579G>T (p.Glu527Ter)
Allele change: Nonsense_E527X

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.