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Variant (rsID / SNP)

rs121908595

MAP2K1

rs121908595 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP2K1. Location: chromosome 15, position 66,729,181. 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
15:66729181
Cytoband
15q22.31
HGVS
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
Allele change
Missense_Y130C

Associated conditions / phenotypes

Cardiofaciocutaneous syndrome 3|Cardio-facio-cutaneous syndrome|RASopathy|Inborn genetic diseases|Cardiofaciocutaneous syndrome 3|Noonan syndrome 1|Melorheostosis

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.