Variant (rsID / SNP)

rs397515554

rs397515554 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.2873G>A (p.Gly958Glu)
Allele change: Missense_G958E

Associated conditions / phenotypes

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.