Variant (rsID / SNP)

rs121918529

rs121918529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEF2A. Location: chromosome 15, position 100,230,605. Clinical significance in the table: Pathogenic.

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Reference-table entries

MEF2APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:100230605
Cytoband: 15q26.3
HGVS: NM_001319206.4(MEF2A):c.830C>T (p.Pro277Leu)
Allele change: Missense_P279L

Associated conditions / phenotypes

Coronary artery disease/myocardial infarction

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.