Variant (rsID / SNP)

rs113994040

rs113994040 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2B4. Location: chromosome 2, position 27,587,374. Clinical significance in the table: Pathogenic.

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Reference-table entries

EIF2B4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:27587374
Cytoband: 2p23.3
HGVS: NM_001034116.2(EIF2B4):c.1465T>C (p.Tyr489His)
Allele change: Missense_Y488H

Associated conditions / phenotypes

Ovarioleukodystrophy

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.