Variant (rsID / SNP)
rs121434498
rs121434498 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP2K2. Location: chromosome 19, position 4,117,551. Clinical significance in the table: Pathogenic.
Reference-table entries
MAP2K2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:4117551
- Cytoband
- 19p13.3
- HGVS
- NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val)
- Allele change
- Missense_F57V
Associated conditions / phenotypes
Cardiofaciocutaneous syndrome 4|Pancreatic adenocarcinoma|Gastric adenocarcinoma|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Cardio-facio-cutaneous syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.