NM_203447.4(DOCK8):c.2308G>C (p.Glu770Gln)Rat Genome Database

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Variant : CV919235 (NM_203447.4(DOCK8):c.2308G>C (p.Glu770Gln)) Homo sapiens

Symbol: CV919235
Name: NM_203447.4(DOCK8):c.2308G>C (p.Glu770Gln)
RGD ID: 38461005
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001197150]
Clinical Significance: uncertain significance
Last Evaluated: 01/08/2020
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_203447.3:c.2308G>C
NP_001177387.1:p.Glu702Gln
NM_001193536.1:c.2104G>C
NM_203447.4:c.2308G>C
LRG_196:g.167215G>C
NG_017007.1:g.167215G>C
LRG_196t1:c.2308G>C
NM_001190458.2:c.2104G>C
NC_000009.12:g.377079G>C
NC_000009.11:g.377079G>C
NP_001180465.1:p.Glu702Gln
NP_982272.2:p.Glu770Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh389377,079 - 377,079CLINVAR
GRCh379377,079 - 377,079CLINVAR
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 RCV001197150 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR