Variant (rsID / SNP)

rs281875189

rs281875189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCA2. Location: chromosome 9, position 2,115,967. Clinical significance in the table: Pathogenic.

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Reference-table entries

SMARCA2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:2115967
Cytoband: 9p24.3
HGVS: NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val)
Allele change: Missense_A1143V

Associated conditions / phenotypes

Nicolaides-Baraitser syndrome|Hirsutism|Intellectual disability|Intellectual disability

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.