Variant (rsID / SNP)

rs1057519732

rs1057519732 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP2K1. Location: chromosome 15, position 66,729,162. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MAP2K1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:66729162
Cytoband: 15q22.31
HGVS: NM_002755.4(MAP2K1):c.370C>A (p.Pro124Thr)
Allele change: Missense_P124S

Associated conditions / phenotypes

Cardiofaciocutaneous syndrome 3

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.