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Variant (rsID / SNP)

rs145444272

AGRN

rs145444272 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGRN. Location: chromosome 1, position 986,165. 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
1:986165
Cytoband
1p36.33
HGVS
NM_198576.4(AGRN):c.5201G>A (p.Arg1734His)
Allele change
Missense_R1734H

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.