Variant (rsID / SNP)

rs146616552

rs146616552 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIG4. Location: chromosome 13, position 108,861,878. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LIG4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:108861878
Cytoband: 13q33.3
HGVS: NM_206937.2(LIG4):c.1739G>A (p.Arg580Gln)
Allele change: Missense_R580Q

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.