{{Rsnum
|rsid=12768894
|Gene=DCLRE1C
|Chromosome=10
|position=14974905
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.1299
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}
{{Venter SNP
|rsid=12768894
|allele=C
|frequency=
|uid=1103649870716
|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+).
}}

{{GET Evidence
|gene=DCLRE1C
|aa_change=His243Arg
|aa_change_short=H243R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12768894
|overall_frequency_n=1535
|overall_frequency_d=10758
|overall_frequency=0.142685
|n_genomes=12
|n_genomes_annotated=0
|n_haplomes=12
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.767
|genetests_testable=Y
|nblosum100=1
|autoscore=1
|webscore=N
}}

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