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Variant (rsID / SNP)

rs757546528

SMARCB1

rs757546528 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCB1. Location: chromosome 22, position 24,145,566. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SMARCB1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:24145566
Cytoband
22q11.23
HGVS
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=)
Allele change
Synonymous_I213I

Public references

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