Variant (rsID / SNP)

rs767575401

rs767575401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCA4. Location: chromosome 19, position 11,096,090. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SMARCA4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:11096090
Cytoband: 19p13.2
HGVS: NM_003072.5(SMARCA4):c.355+9C>T
Allele change: Silent

Associated conditions / phenotypes

Coffin-Siris syndrome|Rhabdoid tumor predisposition syndrome 2|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.