NM_203447.3(DOCK8):c.53+10C>TRat Genome Database

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Variant : CV775556 (NM_203447.3(DOCK8):c.53+10C>T) Homo sapiens

Symbol: CV775556
Name: NM_203447.3(DOCK8):c.53+10C>T
RGD ID: 15185767
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001168672]|not provided [RCV000931154]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 03/20/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: DOCK8   DOCK8-AS1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_203447.3:c.53+10C>T
NG_017007.1:g.5175C>T
NC_000009.12:g.215039C>T
NC_000009.11:g.215039C>T
NR_160804.1:n.712G>A
LRG_196t1:c.53+10C>T
LRG_196:g.5175C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh389215,039 - 215,039CLINVAR
GRCh379215,039 - 215,039CLINVAR
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 RCV000931154 CLINVAR
  RCV001168672 CLINVAR
dbSNP (RS) rs763565243 CLINVAR
MedGen C4722305 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
  DOCK8-AS1 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR