NM_203447.3(DOCK8):c.6238A>G (p.Arg2080Gly)Rat Genome Database

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Variant : CV565949 (NM_203447.3(DOCK8):c.6238A>G (p.Arg2080Gly)) Homo sapiens

Symbol: CV565949
Name: NM_203447.3(DOCK8):c.6238A>G (p.Arg2080Gly)
RGD ID: 13802694
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000698501]
Clinical Significance: uncertain significance
Last Evaluated: 05/25/2018
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): NM_203447.3:c.6238A>G
NP_982272.2:p.Arg2080Gly
LRG_196:g.253822A>G
NG_017007.1:g.253822A>G
NC_000009.11:g.463686A>G
LRG_196t1:c.6238A>G
NC_000009.12:g.463686A>G
LRG_196p1:p.Arg2080Gly
NP_001180465.1:p.Arg2012Gly
NM_001190458.2:c.5938A>G
NP_001177387.1:p.Arg1980Gly
NM_001193536.1:c.6034A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh389463,686 - 463,686CLINVAR
GRCh379463,686 - 463,686CLINVAR
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 RCV000698501 CLINVAR
dbSNP (RS) rs545187374 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR