Variant (rsID / SNP)

rs377403264

rs377403264 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MED12. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MED12Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_005120.3(MED12):c.934G>C (p.Val312Leu)
Allele change: Missense_V312L

Associated conditions / phenotypes

Cardiovascular phenotype|FG syndrome 1|X-linked intellectual disability with marfanoid habitus

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.