Variant (rsID / SNP)

rs2290948

rs2290948 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAN. Location: chromosome 16, position 81,413,699. Clinical significance in the table: Benign.

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Reference-table entries

GANBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:81413699
Cytoband: 16q23.2
HGVS: NM_022041.4(GAN):c.*2498T>G
Allele change: Silent

Associated conditions / phenotypes

Giant axonal neuropathy 1

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.