NM_203447.3(DOCK8):c.404+16delRat Genome Database

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Variant : CV174690 (NM_203447.3(DOCK8):c.404+16del) Homo sapiens

Symbol: CV174690
Name: NM_203447.3(DOCK8):c.404+16del
RGD ID: 9691132
Condition: Hyper-IgE syndrome [RCV000378054]|Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000529918]|not specified [RCV000156840]
Clinical Significance: benign|likely benign
Last Evaluated: 08/07/2017
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: deletion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_196t1:c.404+16del
NM_203447.3:c.404+16del
NG_017007.1:g.79733del
NC_000009.12:g.289597del
NC_000009.11:g.289597del
NC_000009.11:g.289597delT
NM_203447.3:c.404+16delT
NM_001190458.2:c.200+16del
NM_001193536.1:c.200+16del
LRG_196:g.79733del
Position
Human AssemblyChrPosition (strand)Source
GRCh389289,591 - 289,591CLINVAR
GRCh379289,591 - 289,591CLINVAR
Cytogenetic Map99p24.3CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000156840 CLINVAR
  RCV000378054 CLINVAR
  RCV000529918 CLINVAR
dbSNP (RS) rs727505303 CLINVAR
MedGen C3887645 CLINVAR
  C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR