NM_203447.3(DOCK8):c.1193G>A (p.Arg398Gln)Rat Genome Database

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Variant : CV237163 (NM_203447.3(DOCK8):c.1193G>A (p.Arg398Gln)) Homo sapiens

Symbol: CV237163
Name: NM_203447.3(DOCK8):c.1193G>A (p.Arg398Gln)
RGD ID: 11350598
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000815203]|Intellectual disability [RCV001251746]|not provided [RCV000224045]
Clinical Significance: uncertain significance
Last Evaluated: 01/01/2019
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001190458.2:c.989G>A
NM_001193536.1:c.989G>A
NP_001177387.1:p.Arg330Gln
NP_001180465.1:p.Arg330Gln
NM_203447.3:c.1193G>A
LRG_196t1:c.1193G>A
LRG_196:g.124428G>A
NG_017007.1:g.124428G>A
NC_000009.12:g.334292G>A
NC_000009.11:g.334292G>A
LRG_196p1:p.Arg398Gln
NP_982272.2:p.Arg398Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh389334,292 - 334,292CLINVAR
GRCh379334,292 - 334,292 (+)CLINVAR
Cytogenetic Map99p24.3CLINVAR
Trait Synonyms: AR hyperimmunoglobulin E syndrome; Dull intelligence; HIES autosomal recessive; Hyper Ig E syndrome, autosomal recessive; HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE; Intellectual functioning disability; Low intelligence; Mental deficiency; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000224045 CLINVAR
  RCV000815203 CLINVAR
  RCV001251746 CLINVAR
dbSNP (RS) rs147287319 CLINVAR
MedGen C3714756 CLINVAR
  C4722305 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR
SNOMED CT 228156007 CLINVAR