NM_203447.3(DOCK8):c.3023G>A (p.Arg1008Gln)Rat Genome Database

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Variant : CV444502 (NM_203447.3(DOCK8):c.3023G>A (p.Arg1008Gln)) Homo sapiens

Symbol: CV444502
Name: NM_203447.3(DOCK8):c.3023G>A (p.Arg1008Gln)
RGD ID: 13480414
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000534712]|not provided [RCV000521228]
Clinical Significance: uncertain significance
Last Evaluated: 12/23/2019
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): NM_203447.3:c.3023G>A
LRG_196:g.186973G>A
NG_017007.1:g.186973G>A
NC_000009.11:g.396837G>A
NP_982272.2:p.Arg1008Gln
LRG_196p1:p.Arg1008Gln
LRG_196t1:c.3023G>A
NC_000009.12:g.396837G>A
NM_001190458.2:c.2723G>A
NM_001193536.1:c.2819G>A
NP_001177387.1:p.Arg908Gln
NP_001180465.1:p.Arg940Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh389396,837 - 396,837CLINVAR
GRCh379396,837 - 396,837CLINVAR
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:27379089   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000521228 CLINVAR
  RCV000534712 CLINVAR
dbSNP (RS) rs145844320 CLINVAR
MedGen C4722305 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR