Variant: rs879253733

present in Gene: HELLS present in Chromosome: 10 Position on Chromosome: 94594702 Alleles of this Variant: A/G

rs879253733 in HELLS gene and IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 PMID 26216346 2015 Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.