Variant (rsID / SNP)

rs104894426

rs104894426 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2B2. Location: chromosome 14, position 75,475,782. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EIF2B2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:75475782
Cytoband: 14q24.3
HGVS: NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp)
Allele change: Missense_V316D

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.