Variant (rsID / SNP)

rs267606606

rs267606606 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,556,972. Clinical significance in the table: Pathogenic.

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Reference-table entries

NF1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 17:29556972
Cytoband: 17q11.2
HGVS: NM_001042492.3(NF1):c.2970_2972del (p.Met992del)

Associated conditions / phenotypes

Neurofibromatosis-Noonan syndrome|CafÃ©-au-lait macules with pulmonary stenosis|Neurofibromatosis, type 1|Hereditary cancer-predisposing syndrome

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.