Variant (rsID / SNP)

rs121434312

rs121434312 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPRED1. Location: chromosome 15, position 38,614,583. Clinical significance in the table: Pathogenic.

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Reference-table entries

SPRED1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:38614583
Cytoband: 15q14
HGVS: NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)
Allele change: Nonsense_R117X

Associated conditions / phenotypes

Legius syndrome|Noonan syndrome and Noonan-related syndrome|Neurodevelopmental delay

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.