Variant (rsID / SNP)

rs119473037

rs119473037 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCAL1. Location: chromosome 2, position 217,315,650. Clinical significance in the table: Pathogenic.

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Reference-table entries

SMARCAL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:217315650
Cytoband: 2q35
HGVS: NM_014140.4(SMARCAL1):c.1933C>T (p.Arg645Cys)
Allele change: Missense_R645C

Associated conditions / phenotypes

Schimke immuno-osseous dysplasia

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.