Variant (rsID / SNP)

rs199469693

rs199469693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MED12. The table records no clinical significance for this variant.

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Reference-table entries

MED12Not classified

Variant type: Deletion
Cytoband: Xq13.1
HGVS: NM_005120.3(MED12):c.133_144del (p.Phe45_Gln48del)

Associated conditions / phenotypes

Uterine leiomyoma

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.