Variant (rsID / SNP)

rs397516791

rs397516791 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAP2K1. Location: chromosome 15, position 66,727,559. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MAP2K1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:66727559
Cytoband: 15q22.31
HGVS: NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)
Allele change: Missense_L92R

Associated conditions / phenotypes

Cardio-facio-cutaneous syndrome|Noonan syndrome and Noonan-related 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.