Variant (rsID / SNP)

rs113994048

rs113994048 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2B5. Location: chromosome 3, position 183,854,522. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EIF2B5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:183854522
Cytoband: 3q27.1
HGVS: NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe)
Allele change: Missense_L106F

Associated conditions / phenotypes

Vanishing white matter disease|Inborn genetic diseases

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.