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Variant (rsID / SNP)

rs80338758

MED12

rs80338758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MED12. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MED12Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Cytoband
Xq13.1
HGVS
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
Allele change
Missense_R961W

Associated conditions / phenotypes

FG syndrome 1|6 conditions|Blepharophimosis - intellectual disability syndrome, MKB type|FG syndrome 1|X-linked intellectual disability with marfanoid habitus|Blepharophimosis - intellectual disability syndrome, MKB type|Intellectual disability|Inborn genetic diseases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.