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Variant (rsID / SNP)

rs730880511

MAP2K2

rs730880511 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP2K2. Location: chromosome 19, position 4,101,030. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MAP2K2Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
19:4101030
Cytoband
19p13.3
HGVS
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu)
Allele change
Missense_R231L

Associated conditions / phenotypes

RASopathy|Noonan syndrome and Noonan-related syndrome|Noonan syndrome with multiple lentigines|Cardiofaciocutaneous syndrome 4

Public references

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