Variant (rsID / SNP)

rs1805388

rs1805388 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIG4. Location: chromosome 13, position 108,863,591. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LIG4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:108863591
Cytoband: 13q33.3
HGVS: NM_206937.2(LIG4):c.26C>T (p.Thr9Ile)
Allele change: Missense_T9I

Associated conditions / phenotypes

Multiple myeloma, resistance to|DNA ligase IV deficiency|Severe combined immunodeficiency due to DCLRE1C deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.