Gene entry
XRCC4
X-ray repair cross complementing 4
- Chromosome
- 5
- Cytoband
- 5q14.2
- Variants (rsID)
- 54
XRCC4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q14.2). Its official name is “X-ray repair cross complementing 4”. The reference table lists 54 variants (rsID) for this gene.
Clinically classified variants
1 reference-table entries with clinical significance.
- rs587779351Pathogenicsingle nucleotide variantAteleiotic dwarfism|Short stature, microcephaly, and endocrine dysfunction
Other listed variants
- rs35268
- rs40123
- rs301289
- rs1382368
- rs1478486
- rs1479569
- rs1805377
- rs2075685
- rs2126987
- rs2386245
- rs2731866
- rs3734091
- rs3777041
- rs6452524
- rs7706470
- rs7711825
- rs7726666
- rs7735781
- rs10462397
- rs10514249
- rs10514254
- rs12518930
- rs13177759
- rs16900203
- rs17205642
- rs17205706
- rs28360116
- rs28360135
- rs28360256
- rs28360278
- rs28360321
- rs28383116
- rs28383135
- rs28383138
- rs61749611
- rs61762970
- rs62371881
- rs72767181
- rs72769308
- rs72769310
- rs72769342
- rs73140211
- rs76292213
- rs76862218
- rs77765042
- rs80007900
- rs114065704
- rs115112876
- rs115231342
- rs115561306
- rs117620119
- rs140918547
- rs141498148
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.