NM_203447.3(DOCK8):c.4887-8G>CRat Genome Database

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Variant : CV775548 (NM_203447.3(DOCK8):c.4887-8G>C) Homo sapiens

Symbol: CV775548
Name: NM_203447.3(DOCK8):c.4887-8G>C
RGD ID: 15175784
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000928762]
Clinical Significance: likely benign
Last Evaluated: 09/14/2018
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001190458.2:c.4587-8G>C
NM_001193536.1:c.4683-8G>C
NM_203447.3:c.4887-8G>C
NG_017007.1:g.224911G>C
NC_000009.12:g.434775G>C
NC_000009.11:g.434775G>C
LRG_196t1:c.4887-8G>C
LRG_196:g.224911G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh389434,775 - 434,775CLINVAR
GRCh379434,775 - 434,775CLINVAR
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 RCV000928762 CLINVAR
dbSNP (RS) rs768776794 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR