Variant (rsID / SNP)

rs144383241

rs144383241 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP2K2. Location: chromosome 19, position 4,090,637. Clinical significance in the table: Benign.

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Reference-table entries

MAP2K2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:4090637
Cytoband: 19p13.3
HGVS: NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)
Allele change: Missense_R388W

Associated conditions / phenotypes

RASopathy|Noonan syndrome|Cardiofaciocutaneous syndrome 4

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.