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Variant (rsID / SNP)

rs748385144

LIG4

rs748385144 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIG4. Location: chromosome 13, position 108,863,054. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LIG4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:108863054
Cytoband
13q33.3
HGVS
NM_206937.2(LIG4):c.563G>A (p.Arg188Gln)
Allele change
Missense_R188Q

Associated conditions / phenotypes

Severe combined immunodeficiency due to DCLRE1C deficiency|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.