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Variant (rsID / SNP)

rs372410282

SMARCA4

rs372410282 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCA4. Location: chromosome 19, position 11,129,654. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SMARCA4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:11129654
Cytoband
19p13.2
HGVS
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=)
Allele change
Synonymous_Y820Y

Associated conditions / phenotypes

Rhabdoid tumor predisposition syndrome 2|Hereditary cancer-predisposing syndrome|Coffin-Siris 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.