{{Rsnum
|rsid=35441642
|Gene=DCLRE1C
|Chromosome=10
|position=14934728
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.1253
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=DCLRE1C
}}{{Venter SNP
|rsid=35441642
|allele=C
|frequency=
|uid=1103649870711
|type=heterozygous_SNP
|hugo=DCLRE1C
|ensembl gene=ENSG00000152457
|ensembl transcript=ENST00000378278
|sift=AFFECT FUNCTION
|disease=Defects in DCLRE1C are a cause of Omenn Syndrome (MIM:603554). Omenn syndrome is characterized by severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy and alopecia. Affected individuals have elevated T-lymphocyte counts with a restricted T- cell receptor (TCR) repertoire. They also generally lack B- lymphocytes, but have normal natural killer (NK) cell function (T+ B- NK+).
}}

{{ClinVar
|rsid=35441642
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=14976727
|CHROM=10
|GMAF=0.1255
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x05016000000015051e100100
|GENEINFO=DCLRE1C:64421
|GENE_NAME=DCLRE1C
|GENE_ID=64421
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.14976727G>C
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=2
|CLNDBN=Severe combined immunodeficiency disease
|Disease=Severe combined immunodeficiency disease
|Tags=PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD
|CAF=0.8747; 0.1253
|CLNACC=RCV000029657.1
|CLNDSDB=MedGen:SNOMED_CT
|CLNDSDBID=C0085110:31323000
|COMMON=1
}}

{{GET Evidence
|gene=DCLRE1C
|aa_change=Pro171Arg
|aa_change_short=P171R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs35441642
|overall_frequency_n=999
|overall_frequency_d=10758
|overall_frequency=0.0928611
|n_genomes=11
|n_genomes_annotated=0
|n_haplomes=13
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.676
|genetests_testable=Y
|nblosum100=5
|autoscore=1
|webscore=N
}}

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