NM_203447.3(DOCK8):c.5595C>G (p.Ile1865Met)Rat Genome Database

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Variant : CV444508 (NM_203447.3(DOCK8):c.5595C>G (p.Ile1865Met)) Homo sapiens

Symbol: CV444508
Name: NM_203447.3(DOCK8):c.5595C>G (p.Ile1865Met)
RGD ID: 13475761
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001169511]|not provided [RCV000519973]
Clinical Significance: uncertain significance
Last Evaluated: 08/02/2019
Review Status: 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): LRG_196t1:c.5595C>G
LRG_196:g.236520C>G
NC_000009.11:g.446384C>G
NG_017007.1:g.236520C>G
LRG_196p1:p.Ile1865Met
NP_982272.2:p.Ile1865Met
NC_000009.12:g.446384C>G
NM_203447.3:c.5595C>G
NM_001190458.2:c.5295C>G
NM_001193536.1:c.5391C>G
NP_001177387.1:p.Ile1765Met
NP_001180465.1:p.Ile1797Met
Position
Human AssemblyChrPosition (strand)Source
GRCh389446,384 - 446,384CLINVAR
GRCh379446,384 - 446,384CLINVAR
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 RCV000519973 CLINVAR
  RCV001169511 CLINVAR
dbSNP (RS) rs151208894 CLINVAR
MedGen C4722305 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR