NM_203447.3(DOCK8):c.4790A>T (p.Glu1597Val)Rat Genome Database

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Variant : CV564094 (NM_203447.3(DOCK8):c.4790A>T (p.Glu1597Val)) Homo sapiens

Symbol: CV564094
Name: NM_203447.3(DOCK8):c.4790A>T (p.Glu1597Val)
RGD ID: 13814761
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000691100]
Clinical Significance: uncertain significance
Last Evaluated: 04/05/2018
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.4790A>T
LRG_196:g.224015A>T
NG_017007.1:g.224015A>T
NC_000009.12:g.433879A>T
NC_000009.11:g.433879A>T
LRG_196p1:p.Glu1597Val
NP_982272.2:p.Glu1597Val
NM_203447.3:c.4790A>T
NM_001190458.2:c.4490A>T
NM_001193536.1:c.4586A>T
NP_001177387.1:p.Glu1497Val
NP_001180465.1:p.Glu1529Val
Position
Human AssemblyChrPosition (strand)Source
GRCh389433,879 - 433,879CLINVAR
GRCh379433,879 - 433,879CLINVAR
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 RCV000691100 CLINVAR
dbSNP (RS) rs373454848 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR