Variant (rsID / SNP)

rs121907942

rs121907942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAA. Location: chromosome 17, position 78,084,822. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GAAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:78084822
Cytoband: 17q25.3
HGVS: NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)
Allele change: Missense_P545L

Associated conditions / phenotypes

Glycogen storage disease II, adult form|Glycogen storage disease, type II

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.