Variant (rsID / SNP)

rs34689457

rs34689457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NHEJ1. Location: chromosome 2, position 220,023,045. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NHEJ1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:220023045
Cytoband: 2q35
HGVS: NM_024782.3(NHEJ1):c.40G>A (p.Ala14Thr)
Allele change: Missense_A14T

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.