Variant (rsID / SNP)
rs61731910
rs61731910 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIG4. Location: chromosome 13, position 108,861,819. Clinical significance in the table: Benign.
Reference-table entries
LIG4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:108861819
- Cytoband
- 13q33.3
- HGVS
- NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys)
- Allele change
- Missense_E600K
Associated conditions / phenotypes
DNA ligase IV deficiency|Severe combined immunodeficiency due to DCLRE1C deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.