Variant (rsID / SNP)
rs797044590
rs797044590 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFAP. Location: chromosome 17, position 42,988,000. The table records no clinical significance for this variant.
Reference-table entries
GFAPNot classified
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:42988000
- Cytoband
- 17q21.31
- HGVS
- NM_002055.5(GFAP):c.1154C>T (p.Ser385Phe)
- Allele change
- Missense_S385C
Associated conditions / phenotypes
Alexander disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.