NM_203447.3(DOCK8):c.3220C>A (p.His1074Asn)Rat Genome Database

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Variant : CV319385 (NM_203447.3(DOCK8):c.3220C>A (p.His1074Asn)) Homo sapiens

Symbol: CV319385
Name: NM_203447.3(DOCK8):c.3220C>A (p.His1074Asn)
RGD ID: 11604225
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001085892]|Intellectual disability [RCV001251749]|not provided [RCV000893429]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 05/01/2019
Review Status: criteria provided, conflicting interpretations|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.3220C>A
LRG_196:g.189381C>A
NG_017007.1:g.189381C>A
NC_000009.12:g.399245C>A
NC_000009.11:g.399245C>A
LRG_196p1:p.His1074Asn
NP_982272.2:p.His1074Asn
NM_203447.3:c.3220C>A
NM_001190458.2:c.2920C>A
NP_001180465.1:p.His1006Asn
NP_001177387.1:p.His974Asn
NM_001193536.1:c.3016C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh389399,245 - 399,245CLINVAR
GRCh379399,245 - 399,245CLINVAR
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 RCV000893429 CLINVAR
  RCV001085892 CLINVAR
  RCV001251749 CLINVAR
dbSNP (RS) rs150298985 CLINVAR
MedGen C3714756 CLINVAR
  C4722305 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR
SNOMED CT 228156007 CLINVAR