NM_203447.4(DOCK8):c.1732T>G (p.Ser578Ala)Rat Genome Database

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Variant : CV902058 (NM_203447.4(DOCK8):c.1732T>G (p.Ser578Ala)) Homo sapiens

Symbol: CV902058
Name: NM_203447.4(DOCK8):c.1732T>G (p.Ser578Ala)
RGD ID: 28875374
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001165759]
Clinical Significance: uncertain significance
Last Evaluated: 01/13/2018
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.1732T>G
NC_000009.11:g.368070T>G
NM_203447.3:c.1732T>G
NP_001177387.1:p.Ser510Ala
NP_001180465.1:p.Ser510Ala
NP_982272.2:p.Ser578Ala
NC_000009.12:g.368070T>G
NM_001190458.2:c.1528T>G
NM_001193536.1:c.1528T>G
NM_203447.4:c.1732T>G
LRG_196:g.158206T>G
NG_017007.1:g.158206T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh389368,070 - 368,070CLINVAR
GRCh379368,070 - 368,070CLINVAR
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 Information

Database Acc Id Source(s)
ClinVar RCV001165759 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR