Variant (rsID / SNP)
rs113085050
rs113085050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGK. Location: chromosome 7, position 141,315,267. Clinical significance in the table: Benign.
Reference-table entries
AGKBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:141315267
- Cytoband
- 7q34
- HGVS
- NM_018238.4(AGK):c.424-4C>G
- Allele change
- Silent
Associated conditions / phenotypes
Sengers syndrome|Cataract 38|Sengers syndrome|Cataract 38
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
