Variant (rsID / SNP)

rs187377817

rs187377817 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.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

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.1248+15T>C
Allele change: Silent

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.