Variant (rsID / SNP)

rs121908594

rs121908594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP2K1. Location: chromosome 15, position 66,727,442. Clinical significance in the table: Pathogenic.

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Reference-table entries

MAP2K1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:66727442
Cytoband: 15q22.31
HGVS: NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser)
Allele change: Missense_F53S

Associated conditions / phenotypes

Cardiofaciocutaneous syndrome 3|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.