Variant (rsID / SNP)

rs199660743

rs199660743 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGL. Location: chromosome 1, position 100,343,253. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AGLUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:100343253
Cytoband: 1p21.2
HGVS: NM_000642.3(AGL):c.1480C>T (p.Arg494Cys)
Allele change: Missense_R494C

Associated conditions / phenotypes

Glycogen storage disease type III

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.