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Variant (rsID / SNP)

rs147204964

SPRED1

rs147204964 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPRED1. Location: chromosome 15, position 38,591,665. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPRED1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:38591665
Cytoband
15q14
HGVS
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)
Allele change
Missense_V42I

Associated conditions / phenotypes

Legius syndrome|Noonan syndrome and Noonan-related syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.