Variant (rsID / SNP)
rs121964908
rs121964908 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGA. Location: chromosome 4, position 178,360,822. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
AGAPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:178360822
- Cytoband
- 4q34.3
- HGVS
- NM_000027.4(AGA):c.302C>T (p.Ala101Val)
- Allele change
- Missense_A101V
Associated conditions / phenotypes
Aspartylglucosaminuria
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.