Variant (rsID / SNP)

rs104894428

rs104894428 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2B2. Location: chromosome 14, position 75,471,518. Clinical significance in the table: Pathogenic.

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Reference-table entries

EIF2B2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:75471518
Cytoband: 14q24.3
HGVS: NM_014239.4(EIF2B2):c.512C>T (p.Ser171Phe)
Allele change: Missense_S171F

Associated conditions / phenotypes

Ovarioleukodystrophy

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.