{{Rsnum
|rsid=4265781
|Gene=CDAN1
|Chromosome=15
|position=42736551
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=T
|GMAF=0.3912
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=CDAN1
}}{{Venter SNP
|rsid=4265781
|allele=A
|frequency=
|uid=1103645596681
|type=heterozygous_SNP
|hugo=CDAN1
|ensembl gene=ENSG00000140326
|ensembl transcript=ENST00000356231
|sift=TOLERATED
|disease=Defects in CDAN1 are the cause of congenital dyserythropoietic anemia type I (CDAI) (MIM:224120). CDAI is an autosomal recessive disease characterized by morphological and functional abnormalities of erythropoiesis. Ultrastructural erythroid features include spongy heterochromatin and invagination of the nuclear membrane, carrying cytoplasm and cytoplasmic organelles into the nucleus. Patients with CDAI present moderate to severe macrocytic anemia.
}}

{{ClinVar
|rsid=4265781
|Reversed=0
|FwdREF=T
|FwdALT=A
|REF=T
|ALT=A
|RSPOS=43028749
|CHROM=15
|GMAF=0.3919
|dbSNPBuildID=111
|SSR=0
|SAO=1
|VP=0x05016000000011051e100100
|GENEINFO=CDAN1:146059
|GENE_NAME=CDAN1
|GENE_ID=146059
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.43028749T>A
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK5313
|CLNSIG=2
|CLNCUI=C0271933
|CLNDBN=Congenital dyserythropoietic anemia, type I
|Disease=Congenital dyserythropoietic anemia
|CLNACC=RCV000020958.1
|Tags=PM;SLO;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD
|CAF=0.6088; 0.3912
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK5313:C0271933:224120:98869:59548005
|COMMON=1
}}

{{GET Evidence
|gene=CDAN1
|aa_change=Gln107Leu
|aa_change_short=Q107L
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4265781
|overall_frequency_n=466
|overall_frequency_d=1864
|overall_frequency=0.25
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=5
|autoscore=2
|webscore=N
}}

{{on chip | HumanOmni1Quad}}