NM_203447.3(DOCK8):c.333-8delRat Genome Database

Send us a Message



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

Variant : CV779422 (NM_203447.3(DOCK8):c.333-8del) Homo sapiens

Symbol: CV779422
Name: NM_203447.3(DOCK8):c.333-8del
RGD ID: 15141855
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000966375]
Clinical Significance: likely benign
Last Evaluated: 09/21/2018
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: deletion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_203447.3:c.333-8delC
NM_001190458.2:c.129-8del
NM_001193536.1:c.129-8del
NM_203447.3:c.333-8del
NG_017007.1:g.79638del
NC_000009.12:g.289502del
NC_000009.11:g.289502del
LRG_196t1:c.333-8del
LRG_196:g.79638del
NC_000009.11:g.289501del
Position
Human AssemblyChrPosition (strand)Source
GRCh389289,501 - 289,501CLINVAR
GRCh379289,501 - 289,501CLINVAR
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 RCV000966375 CLINVAR
dbSNP (RS) rs766586083 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR