NC_000009.11:g.(?_325651)_(464239_?)dupRat Genome Database

Send us a Message



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

Variant : CV1001616 (NC_000009.11:g.(?_325651)_(464239_?)dup) Homo sapiens

Symbol: CV1001616
Name: NC_000009.11:g.(?_325651)_(464239_?)dup
RGD ID: 126747657
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001315385]
Clinical Significance: uncertain significance
Last Evaluated: 08/25/2020
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)_(464239_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh379325,651 - 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




Additional Information