Variant (rsID / SNP)
rs145712232
rs145712232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAA. Location: chromosome 17, position 78,083,760. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
GAABenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:78083760
- Cytoband
- 17q25.3
- HGVS
- NM_000152.5(GAA):c.1343G>C (p.Ser448Thr)
- Allele change
- Missense_S448T
Associated conditions / phenotypes
Glycogen storage disease, type II|Primary dilated cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.