Variant (rsID / SNP)

rs121434313

rs121434313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPRED1. Location: chromosome 15, position 38,591,611. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SPRED1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:38591611
Cytoband: 15q14
HGVS: NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter)
Allele change: Nonsense_R24X

Associated conditions / phenotypes

Legius 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.