Variant (rsID / SNP)

rs144245019

rs144245019 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGRN. Location: chromosome 1, position 986,732. 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: 1:986732
Cytoband: 1p36.33
HGVS: NM_198576.4(AGRN):c.5353G>A (p.Asp1785Asn)
Allele change: Missense_D1785N

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.