NM_203447.3(DOCK8):c.3565A>G (p.Ile1189Val)Rat Genome Database

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Variant : CV140850 (NM_203447.3(DOCK8):c.3565A>G (p.Ile1189Val)) Homo sapiens

Symbol: CV140850
Name: NM_203447.3(DOCK8):c.3565A>G (p.Ile1189Val)
RGD ID: 8690896
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001079766]|not provided [RCV000224213]|not specified [RCV000124776]
Clinical Significance: benign|likely benign
Last Evaluated: 12/31/2019
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|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): p.Ile1189Val
NP_001177387.1:p.Ile1089Val
NM_001190458.2:c.3265A>G
NM_001193536.1:c.3361A>G
NM_203447.3:c.3565A>G
LRG_196:g.204952A>G
NG_017007.1:g.204952A>G
NC_000009.12:g.414816A>G
NC_000009.11:g.414816A>G
LRG_196p1:p.Ile1189Val
NP_982272.2:p.Ile1189Val
NP_001180465.1:p.Ile1121Val
LRG_196t1:c.3565A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh389414,816 - 414,816CLINVAR
GRCh379414,816 - 414,816CLINVAR
Cytogenetic Map99p24.3CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000124776 CLINVAR
  RCV000224213 CLINVAR
  RCV001079766 CLINVAR
dbSNP (RS) rs77399114 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR