Variant (rsID / SNP)

rs113994053

rs113994053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2B5. Location: chromosome 3, position 183,855,724. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EIF2B5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:183855724
Cytoband: 3q27.1
HGVS: NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met)
Allele change: Missense_T182M

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.