Variant (rsID / SNP)

rs113994049

rs113994049 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2B5. Location: chromosome 3, position 183,855,425. Clinical significance in the table: Pathogenic.

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Reference-table entries

EIF2B5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:183855425
Cytoband: 3q27.1
HGVS: NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)
Allele change: Missense_R113H

Associated conditions / phenotypes

Ovarioleukodystrophy|Vanishing white matter disease|See cases

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.