Variant (rsID / SNP)
rs144164397
rs144164397 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGRN. Location: chromosome 1, position 978,804. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
AGRNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:978804
- Cytoband
- 1p36.33
- HGVS
- NM_198576.4(AGRN):c.1570C>T (p.Arg524Trp)
- Allele change
- Missense_R524W
Associated conditions / phenotypes
Congenital myasthenic syndrome 8
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.