Variant (rsID / SNP)

rs121434499

rs121434499 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP2K2. Location: chromosome 19, position 4,110,557. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MAP2K2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:4110557
Cytoband: 19p13.3
HGVS: NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)
Allele change: Missense_Y134H

Associated conditions / phenotypes

Cardio-facio-cutaneous syndrome|Cardiofaciocutaneous syndrome 4|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.