Variant (rsID / SNP)

rs1058065

rs1058065 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2B4. Location: chromosome 2, position 27,587,724. Clinical significance in the table: Benign.

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Reference-table entries

EIF2B4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:27587724
Cytoband: 2p23.3
HGVS: NM_001034116.2(EIF2B4):c.1233C>T (p.Asn411=)
Allele change: Synonymous_N410N

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.