Variant (rsID / SNP)

rs118204452

rs118204452 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NHEJ1. Location: chromosome 2, position 220,022,217. Clinical significance in the table: Pathogenic.

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Reference-table entries

NHEJ1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:220022217
Cytoband: 2q35
HGVS: NM_024782.3(NHEJ1):c.367T>C (p.Cys123Arg)
Allele change: Missense_C123R

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.