Variant (rsID / SNP)
rs41275003
rs41275003 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGK. Location: chromosome 7, position 141,341,212. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
AGKConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:141341212
- Cytoband
- 7q34
- HGVS
- NM_018238.4(AGK):c.877+14C>T
- Allele change
- Silent
Associated conditions / phenotypes
Cataract 38|Sengers syndrome|Cataract 38|Sengers syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.