XRCC4 Chromosome 5
X-ray repair cross complementing 4
Upload your DNA to see your personal genotypes for variants in XRCC4.
What This Gene Does
The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]
Associated Conditions (5)
Short stature
microcephaly
and endocrine dysfunction
Ateleiotic dwarfism
XRCC4-related disorder
Key Variants
RS369970969
Conflicting classifications of pathogenicity
Short stature, microcephaly, and endocrine dysfunction
Health Risk
RS1746416323
Likely pathogenic
Short stature, microcephaly, and endocrine dysfunction
Health Risk
RS772562216
Likely pathogenic
Short stature, microcephaly, and endocrine dysfunction
Health Risk
RS879255259
Likely pathogenic
Short stature, microcephaly, and endocrine dysfunction
Health Risk
RS991596636
Likely pathogenic
Short stature, microcephaly, and endocrine dysfunction
Health Risk
RS1233593843
Pathogenic
Health Risk
RS1481948454
Pathogenic
Health Risk
RS1561332950
Pathogenic
Health Risk
RS587779351
Pathogenic
Ateleiotic dwarfism, Short stature, microcephaly
Health Risk
RS768825050
Pathogenic
Short stature, microcephaly, and endocrine dysfunction
Health Risk
RS769225929
Pathogenic
Health Risk
RS797045016
Pathogenic
Short stature, microcephaly, and endocrine dysfunction
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369970969 | Health Risk | Conflicting classifications of pathogenicity | Short stature, microcephaly, and endocrine dysfunction |
| RS1746416323 | Health Risk | Likely pathogenic | Short stature, microcephaly, and endocrine dysfunction |
| RS772562216 | Health Risk | Likely pathogenic | Short stature, microcephaly, and endocrine dysfunction |
| RS879255259 | Health Risk | Likely pathogenic | Short stature, microcephaly, and endocrine dysfunction |
| RS991596636 | Health Risk | Likely pathogenic | Short stature, microcephaly, and endocrine dysfunction |
| RS1233593843 | Health Risk | Pathogenic | — |
| RS1481948454 | Health Risk | Pathogenic | — |
| RS1561332950 | Health Risk | Pathogenic | — |
| RS587779351 | Health Risk | Pathogenic | Ateleiotic dwarfism, Short stature, microcephaly |
| RS768825050 | Health Risk | Pathogenic | Short stature, microcephaly, and endocrine dysfunction |
| RS769225929 | Health Risk | Pathogenic | — |
| RS797045016 | Health Risk | Pathogenic | Short stature, microcephaly, and endocrine dysfunction |
| RS797045017 | Health Risk | Pathogenic | Short stature, microcephaly, and endocrine dysfunction |
| RS869320678 | Health Risk | Pathogenic | Short stature, microcephaly, and endocrine dysfunction |
| RS879255258 | Health Risk | Pathogenic | Short stature, microcephaly, and endocrine dysfunction |
| RS779773463 | Health Risk | Pathogenic/Likely pathogenic | Short stature, microcephaly, and endocrine dysfunction |
| RS869320677 | Health Risk | Pathogenic/Likely pathogenic | Short stature, microcephaly, and endocrine dysfunction |
| RS986271387 | Health Risk | Pathogenic/Likely pathogenic | Short stature, microcephaly, and endocrine dysfunction |