Variant (rsID / SNP)

rs2066520

rs2066520 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCAL1. Location: chromosome 2, position 217,293,442. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SMARCAL1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:217293442
Cytoband: 2q35
HGVS: NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val)
Allele change: Missense_D424V

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.