Variant (rsID / SNP)

rs121434497

rs121434497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP2K2. Location: chromosome 19, position 4,117,550. Clinical significance in the table: Pathogenic.

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Reference-table entries

MAP2K2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:4117550
Cytoband: 19p13.3
HGVS: NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys)
Allele change: Missense_F57C

Associated conditions / phenotypes

Cardiofaciocutaneous syndrome 4|Cardio-facio-cutaneous 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.