Variant (rsID / SNP)

rs727504836

rs727504836 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP2K2. Location: chromosome 19, position 4,117,633. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MAP2K2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:4117633
Cytoband: 19p13.3
HGVS: NM_030662.4(MAP2K2):c.93-6C>T
Allele change: Silent

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.