Variant (rsID / SNP)
rs1048719
rs1048719 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GM2A. Location: chromosome 5, position 150,632,832. Clinical significance in the table: Benign.
Reference-table entries
GM2ABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:150632832
- Cytoband
- 5q33.1
- HGVS
- NM_000405.5(GM2A):c.55G>A (p.Ala19Thr)
- Allele change
- Missense_A19T
Associated conditions / phenotypes
Tay-Sachs disease, variant AB
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.