Variant (rsID / SNP)

rs113994022

rs113994022 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2B3. Location: chromosome 1, position 45,444,021. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EIF2B3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:45444021
Cytoband: 1p34.1
HGVS: NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val)
Allele change: Missense_A87V

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.