Variant (rsID / SNP)

rs119473033

rs119473033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCAL1. Location: chromosome 2, position 217,342,939. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SMARCAL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:217342939
Cytoband: 2q35
HGVS: NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)
Allele change: Nonsense_E848X

Associated conditions / phenotypes

Schimke immuno-osseous dysplasia|9 conditions|Nephrotic syndrome

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.