NM_203447.4(DOCK8):c.3803del (p.Phe1268fs)Rat Genome Database

Send us a Message



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

Variant : CV836186 (NM_203447.4(DOCK8):c.3803del (p.Phe1268fs)) Homo sapiens

Symbol: CV836186
Name: NM_203447.4(DOCK8):c.3803del (p.Phe1268fs)
RGD ID: 26916252
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001041838]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2019
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): LRG_196t1:c.3803del
NM_001190458.2:c.3503del
NM_001193536.1:c.3599del
NM_203447.4:c.3803del
LRG_196:g.208306del
NG_017007.1:g.208306del
NC_000009.12:g.418170del
NC_000009.11:g.418170del
NM_203447.3:c.3803del
NP_001177387.1:p.Phe1168fs
NP_001180465.1:p.Phe1200fs
NP_982272.2:p.Phe1268fs
NC_000009.11:g.418168del
Position
Human AssemblyChrPosition (strand)Source
GRCh389418,168 - 418,168CLINVAR
GRCh379418,168 - 418,168CLINVAR
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:19776401   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001041838 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR