Variant (rsID / SNP)

rs59565950

rs59565950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFAP. Location: chromosome 17, position 42,990,701. Clinical significance in the table: Pathogenic.

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Reference-table entries

GFAPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:42990701
Cytoband: 17q21.31
HGVS: NM_002055.5(GFAP):c.716G>A (p.Arg239His)
Allele change: Missense_R239H

Associated conditions / phenotypes

Alexander 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.