Variant (rsID / SNP)

rs140192268

rs140192268 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCA4. Location: chromosome 19, position 11,098,596. Clinical significance in the table: Benign.

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Reference-table entries

SMARCA4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:11098596
Cytoband: 19p13.2
HGVS: NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His)
Allele change: Missense_Y372H

Associated conditions / phenotypes

Rhabdoid tumor predisposition syndrome 2|Coffin-Siris syndrome|Hereditary cancer-predisposing syndrome|Intellectual disability, autosomal dominant 16

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.