Variant (rsID / SNP)

rs113994024

rs113994024 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2B3. Location: chromosome 1, position 45,347,394. Clinical significance in the table: Pathogenic.

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Reference-table entries

EIF2B3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:45347394
Cytoband: 1p34.1
HGVS: NM_020365.5(EIF2B3):c.674G>A (p.Arg225Gln)
Allele change: Missense_R225Q

Associated conditions / phenotypes

Vanishing white matter disease

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.