NM_203447.4(DOCK8):c.5711G>A (p.Arg1904Gln)Rat Genome Database

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Variant : CV934799 (NM_203447.4(DOCK8):c.5711G>A (p.Arg1904Gln)) Homo sapiens

Symbol: CV934799
Name: NM_203447.4(DOCK8):c.5711G>A (p.Arg1904Gln)
RGD ID: 38459443
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001211638]
Clinical Significance: uncertain significance
Last Evaluated: 09/13/2019
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_196:g.236636G>A
NG_017007.1:g.236636G>A
NC_000009.11:g.446500G>A
NM_001193536.1:c.5507G>A
NM_203447.4:c.5711G>A
NM_203447.3:c.5711G>A
NP_001177387.1:p.Arg1804Gln
LRG_196t1:c.5711G>A
NM_001190458.2:c.5411G>A
NC_000009.12:g.446500G>A
NP_001180465.1:p.Arg1836Gln
NP_982272.2:p.Arg1904Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh389446,500 - 446,500CLINVAR
GRCh379446,500 - 446,500CLINVAR
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001211638 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR