NM_203447.3(DOCK8):c.4252G>A (p.Glu1418Lys)Rat Genome Database

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Variant : CV444505 (NM_203447.3(DOCK8):c.4252G>A (p.Glu1418Lys)) Homo sapiens

Symbol: CV444505
Name: NM_203447.3(DOCK8):c.4252G>A (p.Glu1418Lys)
RGD ID: 13485858
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001169371]|not provided [RCV000522726]
Clinical Significance: uncertain significance
Last Evaluated: 08/16/2019
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.4252G>A
NC_000009.11:g.426895G>A
NP_982272.2:p.Glu1418Lys
LRG_196:g.217031G>A
NG_017007.1:g.217031G>A
NC_000009.12:g.426895G>A
LRG_196p1:p.Glu1418Lys
NM_203447.3:c.4252G>A
NM_001190458.2:c.3952G>A
NM_001193536.1:c.4048G>A
NP_001177387.1:p.Glu1318Lys
NP_001180465.1:p.Glu1350Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh389426,895 - 426,895CLINVAR
GRCh379426,895 - 426,895CLINVAR
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 RCV000522726 CLINVAR
  RCV001169371 CLINVAR
dbSNP (RS) rs764918764 CLINVAR
MedGen C4722305 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR