NM_203447.3(DOCK8):c.5585A>G (p.Tyr1862Cys)Rat Genome Database

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Variant : CV308503 (NM_203447.3(DOCK8):c.5585A>G (p.Tyr1862Cys)) Homo sapiens

Symbol: CV308503
Name: NM_203447.3(DOCK8):c.5585A>G (p.Tyr1862Cys)
RGD ID: 11602876
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000294865]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: 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_196t1:c.5585A>G
LRG_196:g.236510A>G
NG_017007.1:g.236510A>G
NC_000009.12:g.446374A>G
NC_000009.11:g.446374A>G
LRG_196p1:p.Tyr1862Cys
NP_982272.2:p.Tyr1862Cys
NM_203447.3:c.5585A>G
NM_001190458.2:c.5285A>G
NM_001193536.1:c.5381A>G
NP_001177387.1:p.Tyr1762Cys
NP_001180465.1:p.Tyr1794Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh389446,374 - 446,374CLINVAR
GRCh379446,374 - 446,374CLINVAR
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 Information

Database Acc Id Source(s)
ClinVar RCV000294865 CLINVAR
dbSNP (RS) rs752479766 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR