NM_203447.3(DOCK8):c.343G>C (p.Asp115His)Rat Genome Database

Send us a Message



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

Variant : CV459425 (NM_203447.3(DOCK8):c.343G>C (p.Asp115His)) Homo sapiens

Symbol: CV459425
Name: NM_203447.3(DOCK8):c.343G>C (p.Asp115His)
RGD ID: 13499182
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000539673]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 10/25/2018
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): LRG_196t1:c.343G>C
LRG_196:g.79656G>C
NG_017007.1:g.79656G>C
NC_000009.12:g.289520G>C
NC_000009.11:g.289520G>C
LRG_196p1:p.Asp115His
NP_982272.2:p.Asp115His
NM_203447.3:c.343G>C
NM_001190458.2:c.139G>C
NM_001193536.1:c.139G>C
NP_001177387.1:p.Asp47His
NP_001180465.1:p.Asp47His
Position
Human AssemblyChrPosition (strand)Source
GRCh389289,520 - 289,520CLINVAR
GRCh379289,520 - 289,520CLINVAR
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 RCV000539673 CLINVAR
dbSNP (RS) rs140270895 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR