Variant (rsID / SNP)
rs2232639
rs2232639 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIG4. Location: chromosome 13, position 108,862,702. Clinical significance in the table: Benign.
Reference-table entries
LIG4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:108862702
- Cytoband
- 13q33.3
- HGVS
- NM_206937.2(LIG4):c.915T>C (p.Ser305=)
- Allele change
- Synonymous_S305S
Associated conditions / phenotypes
Severe combined immunodeficiency due to DCLRE1C deficiency|DNA ligase IV deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.