{{Rsnum
|rsid=34505188
|Gene=COL4A3
|Chromosome=2
|position=227263852
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.09642
|Gene_s=COL4A3,PAPPA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{Venter SNP
|rsid=34505188
|allele=A
|frequency=
|uid=1103658384867
|type=heterozygous_SNP
|hugo=COL4A3
|ensembl gene=ENSG00000169031
|ensembl transcript=ENST00000328380
|sift=TOLERATED
|disease=Defects in COL4A3 are a cause of autosomal recessive Alport syndrome (AS) (MIM:203780). AS is an hereditary disorder characterized by progressive glomerulonephritis, renal failure, hematuria, ocular abnormalities and deafness. The recessive form occurs equally between males and females.
}}

{{GET Evidence
|gene=COL4A3
|aa_change=Arg408His
|aa_change_short=R408H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs34505188
|overall_frequency_n=607
|overall_frequency_d=9608
|overall_frequency=0.0631765
|n_genomes=7
|n_genomes_annotated=0
|n_haplomes=7
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}