NM_203447.3(DOCK8):c.2749G>A (p.Glu917Lys)Rat Genome Database

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Variant : CV266815 (NM_203447.3(DOCK8):c.2749G>A (p.Glu917Lys)) Homo sapiens

Symbol: CV266815
Name: NM_203447.3(DOCK8):c.2749G>A (p.Glu917Lys)
RGD ID: 11636082
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645145]|Intellectual disability [RCV001251747]|not provided [RCV000262778]
Clinical Significance: uncertain significance
Last Evaluated: 12/13/2019
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): LRG_196t1:c.2749G>A
LRG_196:g.172792G>A
NG_017007.1:g.172792G>A
NC_000009.12:g.382656G>A
NC_000009.11:g.382656G>A
LRG_196p1:p.Glu917Lys
NP_982272.2:p.Glu917Lys
NM_001190458.2:c.2545G>A
NM_001193536.1:c.2545G>A
NP_001177387.1:p.Glu849Lys
NP_001180465.1:p.Glu849Lys
NM_203447.3:c.2749G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh389382,656 - 382,656CLINVAR
GRCh379382,656 - 382,656CLINVAR
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 RCV000262778 CLINVAR
  RCV000645145 CLINVAR
  RCV001251747 CLINVAR
dbSNP (RS) rs200899164 CLINVAR
MedGen C3714756 CLINVAR
  C4722305 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR
SNOMED CT 228156007 CLINVAR