Variant (rsID / SNP)

rs186648089

rs186648089 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEF2C. Location: chromosome 5, position 88,057,041. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MEF2CBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:88057041
Cytoband: 5q14.3
HGVS: NM_002397.5(MEF2C):c.363C>T (p.Asn121=)
Allele change: Synonymous_N121N

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 20

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.