Variant (rsID / SNP)
rs387907025
rs387907025 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGK. Location: chromosome 7, position 141,341,162. Clinical significance in the table: Pathogenic.
Reference-table entries
AGKPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:141341162
- Cytoband
- 7q34
- HGVS
- NM_018238.4(AGK):c.841C>T (p.Arg281Ter)
- Allele change
- Nonsense_R281X
Associated conditions / phenotypes
Sengers syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.