NM_203447.4(DOCK8):c.3595G>A (p.Asp1199Asn)Rat Genome Database

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Variant : CV919236 (NM_203447.4(DOCK8):c.3595G>A (p.Asp1199Asn)) Homo sapiens

Symbol: CV919236
Name: NM_203447.4(DOCK8):c.3595G>A (p.Asp1199Asn)
RGD ID: 38460829
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001196935]
Clinical Significance: uncertain significance
Last Evaluated: 03/19/2020
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): NM_001190458.2:c.3295G>A
NC_000009.12:g.414846G>A
NC_000009.11:g.414846G>A
NM_203447.3:c.3595G>A
NP_001177387.1:p.Asp1099Asn
NP_001180465.1:p.Asp1131Asn
NP_982272.2:p.Asp1199Asn
LRG_196t1:c.3595G>A
NM_001193536.1:c.3391G>A
NM_203447.4:c.3595G>A
LRG_196:g.204982G>A
NG_017007.1:g.204982G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh389414,846 - 414,846CLINVAR
GRCh379414,846 - 414,846CLINVAR
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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001196935 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR