Variant (rsID / SNP)

rs62622817

rs62622817 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCE1. Location: chromosome 17, position 38,785,042. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SMARCE1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:38785042
Cytoband: 17q21.2
HGVS: NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter)
Allele change: Nonsense_E411X

Associated conditions / phenotypes

Familial meningioma|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.