{{Rsnum
|rsid=17261572
|Gene=C1GALT1C1
|Chromosome=X
|position=120626774
|Orientation=plus
|GMAF=0.1312
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=C1GALT1C1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 59.8 | 19.6 | 20.5
| HCB | 84.7 | 11.7 | 3.6
| JPT | 91.0 | 7.2 | 1.8
| YRI | 100.0 | 0.0 | 0.0
| ASW | 92.9 | 7.1 | 0.0
| CHB | 84.7 | 11.7 | 3.6
| CHD | 82.6 | 11.9 | 5.5
| GIH | 71.3 | 16.8 | 11.9
| LWK | 99.1 | 0.0 | 0.9
| MEX | 77.6 | 17.2 | 5.2
| MKK | 94.2 | 4.5 | 1.3
| TSI | 76.8 | 12.1 | 11.1
| HapMapRevision=28
}}{{omim
|id=300611
|rsnum=17261572
|variant=0002
}}

{{ClinVar
|rsid=17261572
|Reversed=0
|FwdREF=A
|FwdALT=T
|REF=A
|ALT=T
|RSPOS=119760629
|CHROM=X
|GMAF=0.132007
|dbSNPBuildID=123
|SSR=0
|SAO=1
|VP=0x05016800000015051f110101
|GENEINFO=C1GALT1C1:29071
|GENE_NAME=C1GALT1C1
|GENE_ID=29071
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.119760629A>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=300611.0002
|CLNSIG=255
|CLNCUI=C0272137
|CLNDBN=Polyagglutinable erythrocyte syndrome
|Disease=Polyagglutinable erythrocyte syndrome
|CLNACC=RCV000011539.1
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.8688; 0.1312
|CLNDSDB=MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C0272137:300622:40387008
|COMMON=1
}}

{{PMID Auto
|PMID=18840896
|Title=No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients.
}}

{{GET Evidence
|gene=C1GALT1C1
|aa_change=Asp131Glu
|aa_change_short=D131E
|impact=benign
|qualified_impact=Insufficiently evaluated benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs17261572
|overall_frequency_n=1393
|overall_frequency_d=8759
|overall_frequency=0.159036
|n_genomes=8
|n_genomes_annotated=0
|n_haplomes=10
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|in_omim=Y
|pph2_score=0.001
|nblosum100=-2
|autoscore=2
|webscore=N
|summary_short=This variant is likely a benign polymorphism.  Also found in one individual with Tn syndrome.  
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}