Variant (rsID / SNP)

rs751936459

rs751936459 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCA4. Location: chromosome 19, position 11,144,547. 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: Deletion
Chromosome / position: 19:11144547
Cytoband: 19p13.2
HGVS: NM_003072.5(SMARCA4):c.3873+6del

Associated conditions / phenotypes

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.