Variant (rsID / SNP)

rs138984044

rs138984044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MED12. Clinical significance in the table: Benign.

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Reference-table entries

MED12Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_005120.3(MED12):c.1695T>A (p.Ile565=)
Allele change: Synonymous_I565I

Associated conditions / phenotypes

FG syndrome 1|Cardiovascular phenotype

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.