NM_203447.3(DOCK8):c.3058A>G (p.Ile1020Val)Rat Genome Database

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Variant : CV215402 (NM_203447.3(DOCK8):c.3058A>G (p.Ile1020Val)) Homo sapiens

Symbol: CV215402
Name: NM_203447.3(DOCK8):c.3058A>G (p.Ile1020Val)
RGD ID: 10449841
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645157]|not specified [RCV000202995]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 03/05/2019
Review Status: criteria provided, conflicting interpretations|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): NM_001190458.2:c.2758A>G
NP_001180465.1:p.Ile952Val
NP_001177387.1:p.Ile920Val
NM_001193536.1:c.2854A>G
NM_203447.3:c.3058A>G
LRG_196t1:c.3058A>G
LRG_196:g.187008A>G
NG_017007.1:g.187008A>G
NC_000009.12:g.396872A>G
NC_000009.11:g.396872A>G
LRG_196p1:p.Ile1020Val
NP_982272.2:p.Ile1020Val
Position
Human AssemblyChrPosition (strand)Source
GRCh389396,872 - 396,872CLINVAR
GRCh379396,872 - 396,872CLINVAR
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000202995 CLINVAR
  RCV000645157 CLINVAR
dbSNP (RS) rs151094543 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR