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

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Variant : CV986414 (NC_000009.11:g.(?_325651)_(340341_?)dup) Homo sapiens

Symbol: CV986414
Name: NC_000009.11:g.(?_325651)_(340341_?)dup
RGD ID: 126745621
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001306001]
Clinical Significance: uncertain significance
Last Evaluated: 10/10/2019
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
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




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