Variant (rsID / SNP)

rs886040857

rs886040857 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2S3. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EIF2S3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Cytoband: Xp22.11
HGVS: NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs)

Associated conditions / phenotypes

MEHMO syndrome

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.