Variant (rsID / SNP)
rs113056079
rs113056079 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEL. Location: chromosome 9, position 135,940,439. Clinical significance in the table: Benign.
Reference-table entries
CELBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:135940439
- Cytoband
- 9q34.13
- HGVS
- NM_001807.6(CEL):c.353T>G (p.Leu118Arg)
- Allele change
- Missense_L121R
Associated conditions / phenotypes
Monogenic diabetes
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.