Variant (rsID / SNP)

rs281875227

rs281875227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCA4. Location: chromosome 19, position 11,132,437. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SMARCA4Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:11132437
Cytoband: 19p13.2
HGVS: NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)
Allele change: Missense_R885C

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 16|Inborn genetic diseases

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.