Gene entry
COL4A3
collagen type IV alpha 3 chain
- Chromosome
- 2
- Cytoband
- 2q36.3
- Variants (rsID)
- 62
COL4A3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q36.3). Its official name is “collagen type IV alpha 3 chain”. The reference table lists 62 variants (rsID) for this gene.
Clinically classified variants
16 reference-table entries with clinical significance.
- rs10178458Benignsingle nucleotide variantAlport syndrome|Autosomal recessive Alport syndrome|Autosomal dominant Alport syndrome
- rs115324397Benignsingle nucleotide variantAlport syndrome|Chronic kidney disease
- rs11677877Benignsingle nucleotide variantAlport syndrome|Autosomal recessive Alport syndrome
- rs28381984Benignsingle nucleotide variantAlport syndrome|Autosomal recessive Alport syndrome
- rs34505188Benignsingle nucleotide variantAlport syndrome|Autosomal dominant Alport syndrome|Autosomal recessive Alport syndrome|Autosomal recessive Alport syndrome
- rs56226424Benignsingle nucleotide variantAlport syndrome
- rs57611801Benignsingle nucleotide variantAlport syndrome|Autosomal recessive Alport syndrome
- rs80109666Benignsingle nucleotide variantAlport syndrome|Autosomal dominant Alport syndrome|Autosomal recessive Alport syndrome
- rs121912827Conflicting interpretationssingle nucleotide variantBenign familial hematuria|Autosomal recessive Alport syndrome|Alport syndrome
- rs183218622Conflicting interpretationssingle nucleotide variantAlport syndrome
- rs201697532Conflicting interpretationssingle nucleotide variantAutosomal recessive Alport syndrome|Autosomal dominant Alport syndrome|Alport syndrome|Autosomal dominant Alport syndrome|Autosomal recessive Alport syndrome|Benign familial hematuria
- rs201989155Conflicting interpretationssingle nucleotide variantAlport syndrome
- rs121912824Pathogenicsingle nucleotide variantAutosomal recessive Alport syndrome|Autosomal dominant Alport syndrome|Autosomal recessive Alport syndrome|Benign familial hematuria|Alport syndrome
- rs121912825Pathogenicsingle nucleotide variantAutosomal recessive Alport syndrome
- rs1445615417PathogenicMicrosatelliteAutosomal recessive Alport syndrome
- rs184730597Uncertain significancesingle nucleotide variantAutosomal recessive Alport syndrome
Other listed variants
- rs1922022
- rs1950134
- rs1950135
- rs4271760
- rs4603754
- rs4643535
- rs4675155
- rs4675157
- rs6436664
- rs6723547
- rs6729143
- rs6737679
- rs6750355
- rs7577732
- rs7582825
- rs7606754
- rs9631010
- rs10187805
- rs10498214
- rs11884770
- rs11898214
- rs12618305
- rs13419630
- rs35942888
- rs55694696
- rs55843236
- rs56144414
- rs58235801
- rs59773886
- rs59986392
- rs62277835
- rs62277850
- rs72975949
- rs72975989
- rs74757981
- rs75536146
- rs75890569
- rs76505522
- rs77491634
- rs80090710
- rs80279839
- rs111564047
- rs113929697
- rs114608674
- rs114985407
- rs117260956
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.