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Variant (rsID / SNP)

rs104894419

LIG4

rs104894419 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIG4. Location: chromosome 13, position 108,861,177. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

LIG4Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
13:108861177
Cytoband
13q33.3
HGVS
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)
Allele change
Nonsense_R814X

Associated conditions / phenotypes

DNA ligase IV deficiency|Inborn genetic diseases|Multiple myeloma|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.