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Variant : CV226225 (Single allele) Homo sapiens

Symbol: CV226225
Name: Single allele
RGD ID: 11050256
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000210049]
Clinical Significance: pathogenic
Last Evaluated: 08/25/2015
Review Status: criteria provided, single submitter
Related Genes: DOCK8   DOCK8-AS1  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.204193_343954del
NC_000009.11:g.204193_343954del
Position
Human AssemblyChrPosition (strand)Source
GRCh389204,193 - 343,954CLINVAR
GRCh379204,193 - 343,954CLINVAR
Cytogenetic Map99p24.3CLINVAR
Trait Synonyms: AR hyperimmunoglobulin E syndrome; HIES autosomal recessive; Hyper Ig E syndrome, autosomal recessive; HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
Age Of Onset: infancy|neonatal
Prevalence: <1 / 1 000 000



Disease Annotations     Click to see Annotation Detail View


References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:26680607  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000210049 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene C9orf66 CLINVAR
  DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR