Variant (rsID / SNP)

rs188422094

rs188422094 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIG4. Location: chromosome 13, position 108,861,068. 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: 13:108861068
Cytoband: 13q33.3
HGVS: NM_206937.2(LIG4):c.2549C>T (p.Ala850Val)
Allele change: Missense_A850V

Associated conditions / phenotypes

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.