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Variant (rsID / SNP)

rs376439815

MEF2C

rs376439815 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEF2C. Location: chromosome 5, position 88,018,511. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MEF2CConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:88018511
Cytoband
5q14.3
HGVS
NM_002397.5(MEF2C):c.1332C>T (p.His444=)
Allele change
Silent

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 20

Public references

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