NM_203447.4(DOCK8):c.3460C>TRat Genome Database

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Variant : CV407710 (NM_203447.4(DOCK8):c.3460C>T) Homo sapiens

Symbol: CV407710
Name: NM_203447.4(DOCK8):c.3460C>T
RGD ID: 12899282
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001086901]|not provided [RCV000479850]
Clinical Significance: benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 04/17/2020
Review Status: criteria provided, conflicting interpretations|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_196:g.197135C>T
NG_017007.1:g.197135C>T
NC_000009.12:g.406999C>T
NC_000009.11:g.406999C>T
LRG_196p1:p.Arg1154Cys
NP_982272.2:p.Arg1154Cys
NP_001177387.1:p.Arg1054Cys
NP_001180465.1:p.Arg1086Cys
NM_001190458.2:c.3160C>T
NM_001193536.1:c.3256C>T
NM_203447.4:c.3460C>T
LRG_196t1:c.3460C>T
NM_203447.3:c.3460C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh389406,999 - 406,999CLINVAR
GRCh379406,999 - 406,999CLINVAR
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000479850 CLINVAR
  RCV001086901 CLINVAR
dbSNP (RS) rs34390308 CLINVAR
MedGen C4722305 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR