Variant (rsID / SNP)

rs200157475

rs200157475 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPRED1. Location: chromosome 15, position 38,545,412. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SPRED1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:38545412
Cytoband: 15q14
HGVS: NM_152594.3(SPRED1):c.26A>T (p.Asp9Val)
Allele change: Missense_D9V

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.