NM_203447.3(DOCK8):c.529-5C>GRat Genome Database

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Variant : CV744376 (NM_203447.3(DOCK8):c.529-5C>G) Homo sapiens

Symbol: CV744376
Name: NM_203447.3(DOCK8):c.529-5C>G
RGD ID: 15114052
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000894783]
Clinical Significance: likely benign
Last Evaluated: 02/04/2019
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.325-5C>G
NM_001193536.1:c.325-5C>G
NM_203447.3:c.529-5C>G
NG_017007.1:g.102085C>G
NC_000009.12:g.311949C>G
NC_000009.11:g.311949C>G
LRG_196t1:c.529-5C>G
LRG_196:g.102085C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh389311,949 - 311,949CLINVAR
GRCh379311,949 - 311,949CLINVAR
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 RCV000894783 CLINVAR
dbSNP (RS) rs768752588 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR