NM_203447.4(DOCK8):c.4785+6C>GRat Genome Database

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Variant : CV174825 (NM_203447.4(DOCK8):c.4785+6C>G) Homo sapiens

Symbol: CV174825
Name: NM_203447.4(DOCK8):c.4785+6C>G
RGD ID: 9687734
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000403442]|not specified [RCV000150514]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|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_001193536.1:c.4581+6C>G
NM_001190458.2:c.4485+6C>G
NM_203447.4:c.4785+6C>G
LRG_196t1:c.4785+6C>G
NM_203447.3:c.4785+6C>G
LRG_196:g.222466C>G
NG_017007.1:g.222466C>G
NC_000009.12:g.432330C>G
NC_000009.11:g.432330C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh389432,330 - 432,330CLINVAR
GRCh379432,330 - 432,330CLINVAR
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  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000150514 CLINVAR
  RCV000403442 CLINVAR
dbSNP (RS) rs7036567 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR