Variant (rsID / SNP)

rs61736896

rs61736896 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAA. Location: chromosome 17, position 78,086,452. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GAAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:78086452
Cytoband: 17q25.3
HGVS: NM_000152.5(GAA):c.1830C>T (p.Ala610=)
Allele change: Synonymous_A610A

Associated conditions / phenotypes

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.