NM_203447.4(DOCK8):c.1526G>A (p.Arg509Lys)Rat Genome Database

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Variant : CV1029180 (NM_203447.4(DOCK8):c.1526G>A (p.Arg509Lys)) Homo sapiens

Symbol: CV1029180
Name: NM_203447.4(DOCK8):c.1526G>A (p.Arg509Lys)
RGD ID: 126734158
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001349895]
Clinical Significance: uncertain significance
Last Evaluated: 05/15/2020
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): NG_017007.1:g.130304G>A
NM_001190458.2:c.1322G>A
NM_001193536.2:c.1322G>A
LRG_196:g.130304G>A
NM_203447.4:c.1526G>A
NP_001180465.1:p.Arg441Lys
NP_982272.2:p.Arg509Lys
NC_000009.12:g.340168G>A
NC_000009.11:g.340168G>A
NP_001177387.1:p.Arg441Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh389340,168 - 340,168CLINVAR
GRCh379340,168 - 340,168CLINVAR
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 RCV001349895 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR