EIF2S3 Chromosome X
Eukaryotic translation initiation factor 2 subunit gamma
Upload your DNA to see your personal genotypes for variants in EIF2S3.
What This Gene Does
The protein encoded by this gene is the largest subunit of a heterotrimeric GTP-binding protein involved in the recruitment of methionyl-tRNA(i) to the 40 S ribosomal subunit. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Translational GTPases
Locus Type
gene with protein product
Location
Xp22.11
Ensembl
ENSG00000130741
Associated Conditions (1)
MEHMO syndrome
Key Variants
RS1930671469
Conflicting classifications of pathogenicity
MEHMO syndrome, MEHMO syndrome
Health Risk
RS2147129316
Conflicting classifications of pathogenicity
MEHMO syndrome, MEHMO syndrome
Health Risk
RS1602041478
Likely pathogenic
MEHMO syndrome, MEHMO syndrome
Health Risk
RS2147128410
Likely pathogenic
MEHMO syndrome, MEHMO syndrome
Health Risk
RS2518575520
Likely pathogenic
MEHMO syndrome, MEHMO syndrome
Health Risk
RS751468976
Likely pathogenic
MEHMO syndrome, MEHMO syndrome
Health Risk
RS2147131515
Pathogenic
MEHMO syndrome, MEHMO syndrome
Health Risk
RS886040855
Pathogenic
MEHMO syndrome, MEHMO syndrome
Health Risk
RS886040856
Pathogenic
MEHMO syndrome, MEHMO syndrome
Health Risk
RS886040857
Pathogenic/Likely pathogenic
MEHMO syndrome, MEHMO syndrome
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1930671469 | Health Risk | Conflicting classifications of pathogenicity | MEHMO syndrome, MEHMO syndrome |
| RS2147129316 | Health Risk | Conflicting classifications of pathogenicity | MEHMO syndrome, MEHMO syndrome |
| RS1602041478 | Health Risk | Likely pathogenic | MEHMO syndrome, MEHMO syndrome |
| RS2147128410 | Health Risk | Likely pathogenic | MEHMO syndrome, MEHMO syndrome |
| RS2518575520 | Health Risk | Likely pathogenic | MEHMO syndrome, MEHMO syndrome |
| RS751468976 | Health Risk | Likely pathogenic | MEHMO syndrome, MEHMO syndrome |
| RS2147131515 | Health Risk | Pathogenic | MEHMO syndrome, MEHMO syndrome |
| RS886040855 | Health Risk | Pathogenic | MEHMO syndrome, MEHMO syndrome |
| RS886040856 | Health Risk | Pathogenic | MEHMO syndrome, MEHMO syndrome |
| RS886040857 | Health Risk | Pathogenic/Likely pathogenic | MEHMO syndrome, MEHMO syndrome |