Variant (rsID / SNP)
rs1050448
rs1050448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2B1. Location: chromosome 12, position 124,105,925. Clinical significance in the table: Benign.
Reference-table entries
EIF2B1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:124105925
- Cytoband
- 12q24.31
- HGVS
- NM_001414.4(EIF2B1):c.*378C>T
- Allele change
- Silent
Associated conditions / phenotypes
Vanishing white matter disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.