Variant (rsID / SNP)

rs143324306

rs143324306 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGRN. Location: chromosome 1, position 979,397. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AGRNConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:979397
Cytoband: 1p36.33
HGVS: NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys)
Allele change: Missense_E665K

Associated conditions / phenotypes

Congenital myasthenic syndrome 8

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.