Variant (rsID / SNP)

rs121908596

rs121908596 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP2K1. Location: chromosome 15, position 66,729,175. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MAP2K1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:66729175
Cytoband: 15q22.31
HGVS: NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val)
Allele change: Missense_G128V

Associated conditions / phenotypes

Cardiofaciocutaneous syndrome 3|Cardio-facio-cutaneous syndrome|RASopathy

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.