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Variant (rsID / SNP)

rs138689221

SMARCA4

rs138689221 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCA4. Location: chromosome 19, position 11,096,951. 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
19:11096951
Cytoband
19p13.2
HGVS
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg)
Allele change
Missense_G148R

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.