Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201025841

GNE

rs201025841 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNE. Location: chromosome 9, position 36,227,239. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GNEConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:36227239
Cytoband
9p13.3
HGVS
NM_005476.7(GNE):c.1281+6A>T
Allele change
Silent

Associated conditions / phenotypes

GNE myopathy|Inclusion Body Myopathy, Recessive|Sialuria|Sialuria|GNE myopathy

Public references

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