Gene entry
MAP2K1
mitogen-activated protein kinase kinase 1
- Chromosome
- 15
- Cytoband
- 15q22.31
- Variants (rsID)
- 22
MAP2K1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q22.31). Its official name is “mitogen-activated protein kinase kinase 1”. The reference table lists 22 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs11637556Benignsingle nucleotide variant
- rs150841154Benignsingle nucleotide variantRASopathy|Noonan syndrome and Noonan-related syndrome
- rs368800650Likely benignsingle nucleotide variantRASopathy
- rs397516791Likely pathogenicsingle nucleotide variantCardio-facio-cutaneous syndrome|Noonan syndrome and Noonan-related syndrome
- rs121908594Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 3|Cardio-facio-cutaneous syndrome
- rs121908595Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 3|Cardio-facio-cutaneous syndrome|RASopathy|Inborn genetic diseases|Cardiofaciocutaneous syndrome 3|Noonan syndrome 1|Melorheostosis
- rs121908596Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 3|Cardio-facio-cutaneous syndrome|RASopathy
- rs1057519732Uncertain significancesingle nucleotide variantCardiofaciocutaneous syndrome 3
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.