Variant (rsID / SNP)

rs58064122

rs58064122 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFAP. Location: chromosome 17, position 42,990,702. 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: 17:42990702
Cytoband: 17q21.31
HGVS: NM_002055.5(GFAP):c.715C>T (p.Arg239Cys)
Allele change: Missense_R239C

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.