Variant (rsID / SNP)
rs772226399
rs772226399 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIG4. Location: chromosome 13, position 108,862,342. Clinical significance in the table: Pathogenic.
Reference-table entries
LIG4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 13:108862342
- Cytoband
- 13q33.3
- HGVS
- NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs)
Associated conditions / phenotypes
LIG4-Related Disorders|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.