Variant (rsID / SNP)

rs118204453

rs118204453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NHEJ1. Location: chromosome 2, position 220,011,458. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NHEJ1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:220011458
Cytoband: 2q35
HGVS: NM_024782.3(NHEJ1):c.532C>T (p.Arg178Ter)
Allele change: Nonsense_R178X

Associated conditions / phenotypes

Cernunnos-XLF 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.