NC_000009.11:g.(?_214957)_(340341_?)dupRat Genome Database

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Variant : CV563241 (NC_000009.11:g.(?_214957)_(340341_?)dup) Homo sapiens

Symbol: CV563241
Name: NC_000009.11:g.(?_214957)_(340341_?)dup
RGD ID: 13819391
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000708314]
Clinical Significance: uncertain significance
Last Evaluated: 10/02/2018
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)_(340341_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389214,957 - 340,341CLINVAR
GRCh379214,957 - 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 RCV000708314 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene C9orf66 CLINVAR
  DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR