Variant (rsID / SNP)

rs2232637

rs2232637 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIG4. Location: chromosome 13, position 108,863,437. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LIG4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:108863437
Cytoband: 13q33.3
HGVS: NM_206937.2(LIG4):c.180C>T (p.Val60=)
Allele change: Synonymous_V60V

Associated conditions / phenotypes

Severe combined immunodeficiency due to DCLRE1C deficiency|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.