Variant (rsID / SNP)

rs2230307

rs2230307 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGL. Location: chromosome 1, position 100,361,925. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AGLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:100361925
Cytoband: 1p21.2
HGVS: NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg)
Allele change: Missense_G1115R

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.