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Variant (rsID / SNP)

rs369700456

GAN

rs369700456 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAN. Location: chromosome 16, position 81,387,996. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GANConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:81387996
Cytoband
16q23.2
HGVS
NM_022041.4(GAN):c.283-14T>C
Allele change
Silent

Associated conditions / phenotypes

Giant axonal neuropathy 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.