NM_203447.3(DOCK8):c.605G>A (p.Arg202His)Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV525079 (NM_203447.3(DOCK8):c.605G>A (p.Arg202His)) Homo sapiens

Symbol: CV525079
Name: NM_203447.3(DOCK8):c.605G>A (p.Arg202His)
RGD ID: 13617083
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645153]
Clinical Significance: uncertain significance
Last Evaluated: 11/21/2018
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.605G>A
LRG_196:g.102166G>A
NG_017007.1:g.102166G>A
NC_000009.12:g.312030G>A
NC_000009.11:g.312030G>A
LRG_196p1:p.Arg202His
NP_982272.2:p.Arg202His
NM_001193536.1:c.401G>A
NM_001190458.2:c.401G>A
NP_001177387.1:p.Arg134His
NP_001180465.1:p.Arg134His
NM_203447.3:c.605G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh389312,030 - 312,030CLINVAR
GRCh379312,030 - 312,030CLINVAR
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 RCV000645153 CLINVAR
dbSNP (RS) rs374288188 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR