Variant (rsID / SNP)

rs104894418

rs104894418 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIG4. Location: chromosome 13, position 108,861,879. Clinical significance in the table: Pathogenic.

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Reference-table entries

LIG4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:108861879
Cytoband: 13q33.3
HGVS: NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter)
Allele change: Nonsense_R580X

Associated conditions / phenotypes

DNA ligase IV 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.