NM_203447.3(DOCK8):c.1126-395_2971-2751delRat Genome Database

Send us a Message



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

Variant : CV15989 (NM_203447.3(DOCK8):c.1126-395_2971-2751del) Homo sapiens

Symbol: CV15989
Name: NM_203447.3(DOCK8):c.1126-395_2971-2751del
RGD ID: 8595237
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000001000]
Clinical Significance: pathogenic
Last Evaluated: 07/22/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: DOCK8  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Nucleotide Change: ex10-23, del
Evidence: literature only
HGVS Name(s): NC_000009.10:g.323830_384034del
NC_000009.12:g.333830_394034del
NC_000009.11:g.333830_394034del
LRG_196t1:c.1126-395_2971-2751del
NM_203447.3:c.1126-395_2971-2751del
Position
Human AssemblyChrPosition (strand)Source
GRCh389333,830 - 394,034CLINVAR
GRCh379333,830 - 394,034CLINVAR
Build 369323,830 - 384,034CLINVAR
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
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations     Click to see Annotation Detail View


References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:19776401  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000001000 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR
OMIM Allele 611432.0002 CLINVAR