Variant (rsID / SNP)

rs150841154

rs150841154 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP2K1. Location: chromosome 15, position 66,782,908. Clinical significance in the table: Benign.

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Reference-table entries

MAP2K1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:66782908
Cytoband: 15q22.31
HGVS: NM_002755.4(MAP2K1):c.1137C>T (p.Ile379_Gly380=)
Allele change: Synonymous_I379I

Associated conditions / phenotypes

RASopathy|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.