NM_203447.3(DOCK8):c.1680-2A>GRat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV565928 (NM_203447.3(DOCK8):c.1680-2A>G) Homo sapiens

Symbol: CV565928
Name: NM_203447.3(DOCK8):c.1680-2A>G
RGD ID: 13818110
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000693488]
Clinical Significance: likely pathogenic
Last Evaluated: 04/01/2018
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: clinical testing
HGVS Name(s): LRG_196t1:c.1680-2A>G
NM_203447.3:c.1680-2A>G
LRG_196:g.158152A>G
NG_017007.1:g.158152A>G
NC_000009.12:g.368016A>G
NC_000009.11:g.368016A>G
NM_001190458.2:c.1476-2A>G
NM_001193536.1:c.1476-2A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh389368,016 - 368,016CLINVAR
GRCh379368,016 - 368,016CLINVAR
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:14722525   PMID:16199547   PMID:19776401   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000693488 CLINVAR
dbSNP (RS) rs749633690 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR