Variant (rsID / SNP)

rs843358

rs843358 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2B5. Location: chromosome 3, position 183,861,243. Clinical significance in the table: Benign.

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Reference-table entries

EIF2B5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:183861243
Cytoband: 3q27.1
HGVS: NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val)
Allele change: Missense_I587V

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.