NM_203447.3(DOCK8):c.3573C>G (p.Ser1191Arg)Rat Genome Database

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Variant : CV444503 (NM_203447.3(DOCK8):c.3573C>G (p.Ser1191Arg)) Homo sapiens

Symbol: CV444503
Name: NM_203447.3(DOCK8):c.3573C>G (p.Ser1191Arg)
RGD ID: 13476986
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000691565]|not provided [RCV000520282]
Clinical Significance: uncertain significance
Last Evaluated: 05/18/2018
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): NM_203447.3:c.3573C>G
LRG_196t1:c.3573C>G
LRG_196:g.204960C>G
NC_000009.12:g.414824C>G
NC_000009.11:g.414824C>G
NG_017007.1:g.204960C>G
NP_982272.2:p.Ser1191Arg
LRG_196p1:p.Ser1191Arg
NM_001190458.2:c.3273C>G
NM_001193536.1:c.3369C>G
NP_001177387.1:p.Ser1091Arg
NP_001180465.1:p.Ser1123Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh389414,824 - 414,824CLINVAR
GRCh379414,824 - 414,824CLINVAR
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 RCV000520282 CLINVAR
  RCV000691565 CLINVAR
dbSNP (RS) rs13285348 CLINVAR
MedGen C4722305 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR