Variant (rsID / SNP)

rs544749044

rs544749044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGRN. Location: chromosome 1, position 976,059. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AGRNConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:976059
Cytoband: 1p36.33
HGVS: NM_198576.4(AGRN):c.526C>T (p.Leu176=)

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.