Variant (rsID / SNP)

rs77068026

rs77068026 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2B3. Location: chromosome 1, position 45,340,342. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EIF2B3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:45340342
Cytoband: 1p34.1
HGVS: NM_020365.5(EIF2B3):c.1202+8T>G
Allele change: Silent

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.