Variant (rsID / SNP)

rs199469668

rs199469668 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: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_005120.3(MED12):c.128A>C (p.Gln43Pro)
Allele change: Missense_Q43P

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.