Variant: rs121908159

present in Gene: MEIG1;DCLRE1C present in Chromosome: 10 Position on Chromosome: 14953908 Alleles of this Variant: G/C

rs121908159 in MEIG1;DCLRE1C gene and Omenn Syndrome PMID 15731174 2005 Omenn syndrome due to ARTEMIS mutations.

PMID 25917813 2015 Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.

PMID 15071507 2004 Functional and biochemical dissection of the structure-specific nuclease ARTEMIS.

PMID 19953608 2010 The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.