Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs141629512

NF2

rs141629512 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF2. Location: chromosome 22, position 30,054,191. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NF2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:30054191
Cytoband
22q12.2
HGVS
NM_000268.4(NF2):c.613A>G (p.Met205Val)
Allele change
Missense_M205V

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.