Variant (rsID / SNP)

rs144486241

rs144486241 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAN. Location: chromosome 16, position 81,391,507. 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: 16:81391507
Cytoband: 16q23.2
HGVS: NM_022041.4(GAN):c.944C>T (p.Pro315Leu)
Allele change: Missense_P315L

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.