NC_000009.11:g.(?_420381)_(464239_?)dupRat Genome Database

Send us a Message



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

Variant : CV651953 (NC_000009.11:g.(?_420381)_(464239_?)dup) Homo sapiens

Symbol: CV651953
Name: NC_000009.11:g.(?_420381)_(464239_?)dup
RGD ID: 14715918
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000801984]
Clinical Significance: uncertain significance
Last Evaluated: 11/28/2018
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.(?_420381)_(464239_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389420,381 - 464,239CLINVAR
GRCh379420,381 - 464,239CLINVAR
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 RCV000801984 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR