Variant (rsID / SNP)
rs104894425
rs104894425 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2B2. Location: chromosome 14, position 75,472,609. Clinical significance in the table: Pathogenic.
Reference-table entries
EIF2B2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:75472609
- Cytoband
- 14q24.3
- HGVS
- NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly)
- Allele change
- Missense_E213G
Associated conditions / phenotypes
Vanishing white matter disease|Ovarioleukodystrophy|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.