Variant (rsID / SNP)

rs864622410

rs864622410 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPRED1. Location: chromosome 15, position 38,643,326. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SPRED1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 15:38643326
Cytoband: 15q14
HGVS: NM_152594.3(SPRED1):c.796_797del (p.Met266fs)

Associated conditions / phenotypes

Legius syndrome|Noonan syndrome and Noonan-related 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.