Variant (rsID / SNP)

rs113994007

rs113994007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2B1. Location: chromosome 12, position 124,109,339. Clinical significance in the table: Uncertain significance.

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Reference-table entries

EIF2B1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:124109339
Cytoband: 12q24.31
HGVS: NM_001414.4(EIF2B1):c.622A>T (p.Asn208Tyr)
Allele change: Missense_N208Y

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.