Variant (rsID / SNP)

rs199876834

rs199876834 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCAL1. Location: chromosome 2, position 217,311,805. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SMARCAL1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:217311805
Cytoband: 2q35
HGVS: NM_014140.4(SMARCAL1):c.1775C>G (p.Thr592Arg)
Allele change: Missense_T592M

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.