Variant (rsID / SNP)

rs149268246

rs149268246 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGRN. Location: chromosome 1, position 982,968. Clinical significance in the table: Uncertain significance.

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Reference-table entries

AGRNUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:982968
Cytoband: 1p36.33
HGVS: NM_198576.4(AGRN):c.3532C>T (p.Arg1178Trp)
Allele change: Missense_R1178W

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.