Variant (rsID / SNP)

rs199934893

rs199934893 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIG4. Location: chromosome 13, position 108,862,280. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LIG4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:108862280
Cytoband: 13q33.3
HGVS: NM_206937.2(LIG4):c.1337G>C (p.Gly446Ala)
Allele change: Missense_G446A

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.