Variant (rsID / SNP)

rs281875186

rs281875186 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCA2. Location: chromosome 9, position 2,115,850. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SMARCA2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:2115850
Cytoband: 9p24.3
HGVS: NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His)
Allele change: Missense_R1104H

Associated conditions / phenotypes

Nicolaides-Baraitser 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.