NC_000009.11:g.(?_325651)_(340341_?)dupRat Genome Database

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Variant : CV524411 (NC_000009.11:g.(?_325651)_(340341_?)dup) Homo sapiens

Symbol: CV524411
Name: NC_000009.11:g.(?_325651)_(340341_?)dup
RGD ID: 13617180
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645185]
Clinical Significance: uncertain significance
Last Evaluated: 10/09/2018
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.(?_325651)_(340341_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389325,651 - 340,341CLINVAR
GRCh379325,651 - 340,341CLINVAR
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 RCV000645185 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR