Variant (rsID / SNP)

rs35907255

rs35907255 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCAL1. Location: chromosome 2, position 217,279,850. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SMARCAL1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:217279850
Cytoband: 2q35
HGVS: NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=)
Allele change: Synonymous_Y141Y

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.