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Variant (rsID / SNP)

rs547268941

SMARCA4

rs547268941 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCA4. Location: chromosome 19, position 11,098,463. 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
19:11098463
Cytoband
19p13.2
HGVS
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=)
Allele change
Synonymous_P327P

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.