NM_203447.4(DOCK8):c.3793G>A (p.Gly1265Arg)Rat Genome Database

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Variant : CV934795 (NM_203447.4(DOCK8):c.3793G>A (p.Gly1265Arg)) Homo sapiens

Symbol: CV934795
Name: NM_203447.4(DOCK8):c.3793G>A (p.Gly1265Arg)
RGD ID: 38471953
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001202982]
Clinical Significance: uncertain significance
Last Evaluated: 06/26/2019
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.3493G>A
LRG_196t1:c.3793G>A
NP_001180465.1:p.Gly1197Arg
NP_982272.2:p.Gly1265Arg
NM_001193536.1:c.3589G>A
NM_203447.4:c.3793G>A
LRG_196:g.208296G>A
NG_017007.1:g.208296G>A
NC_000009.12:g.418160G>A
NC_000009.11:g.418160G>A
NM_203447.3:c.3793G>A
NP_001177387.1:p.Gly1165Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh389418,160 - 418,160CLINVAR
GRCh379418,160 - 418,160CLINVAR
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 RCV001202982 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR