NC_000009.12:g.(?_214957)_(215049_?)delRat Genome Database

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Variant : CV458128 (NC_000009.12:g.(?_214957)_(215049_?)del) Homo sapiens

Symbol: CV458128
Name: NC_000009.12:g.(?_214957)_(215049_?)del
RGD ID: 13500769
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000540625]
Clinical Significance: pathogenic
Last Evaluated: 12/24/2019
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_000009.11:g.(?_214957)_(215049_?)del
NC_000009.12:g.(?_214957)_(215049_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh389214,957 - 215,049CLINVAR
GRCh379214,957 - 215,049CLINVAR
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



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:25724123   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000540625 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene C9orf66 CLINVAR
  DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR