NC_000009.11:g.(?_214957)_(289601_?)dupRat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV524402 (NC_000009.11:g.(?_214957)_(289601_?)dup) Homo sapiens

Symbol: CV524402
Name: NC_000009.11:g.(?_214957)_(289601_?)dup
RGD ID: 13617178
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645186]
Clinical Significance: uncertain significance
Last Evaluated: 11/05/2018
Review Status: criteria provided, single submitter
Related Genes: DOCK8   DOCK8-AS1  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.(?_214957)_(289601_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389214,957 - 289,601CLINVAR
GRCh379214,957 - 289,601CLINVAR
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000645186 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene C9orf66 CLINVAR
  DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR