NM_203447.3(DOCK8):c.3010C>T (p.Arg1004Trp)Rat Genome Database

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Variant : CV565932 (NM_203447.3(DOCK8):c.3010C>T (p.Arg1004Trp)) Homo sapiens

Symbol: CV565932
Name: NM_203447.3(DOCK8):c.3010C>T (p.Arg1004Trp)
RGD ID: 13818698
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000693883]
Clinical Significance: uncertain significance
Last Evaluated: 07/10/2018
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): LRG_196t1:c.3010C>T
LRG_196:g.186960C>T
NG_017007.1:g.186960C>T
NC_000009.12:g.396824C>T
NC_000009.11:g.396824C>T
LRG_196p1:p.Arg1004Trp
NP_982272.2:p.Arg1004Trp
NM_203447.3:c.3010C>T
NM_001190458.2:c.2710C>T
NM_001193536.1:c.2806C>T
NP_001177387.1:p.Arg904Trp
NP_001180465.1:p.Arg936Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh389396,824 - 396,824CLINVAR
GRCh379396,824 - 396,824CLINVAR
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000693883 CLINVAR
dbSNP (RS) rs369178263 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR