Variant (rsID / SNP)

rs376058351

rs376058351 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MED12. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MED12Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_005120.3(MED12):c.4179A>C (p.Ser1393=)
Allele change: Synonymous_S1393S

Associated conditions / phenotypes

Cardiovascular phenotype|History of neurodevelopmental disorder|FG syndrome 1

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.