NM_203447.3(DOCK8):c.287C>T (p.Thr96Met)Rat Genome Database

Send us a Message



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

Variant : CV444469 (NM_203447.3(DOCK8):c.287C>T (p.Thr96Met)) Homo sapiens

Symbol: CV444469
Name: NM_203447.3(DOCK8):c.287C>T (p.Thr96Met)
RGD ID: 13487371
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001230768]|not provided [RCV000523205]
Clinical Significance: uncertain significance
Last Evaluated: 11/15/2019
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_196:g.76727C>T
NC_000009.12:g.286591C>T
NC_000009.11:g.286591C>T
LRG_196t1:c.287C>T
NG_017007.1:g.76727C>T
LRG_196p1:p.Thr96Met
NP_982272.2:p.Thr96Met
NM_203447.3:c.287C>T
NP_001177387.1:p.Thr28Met
NP_001180465.1:p.Thr28Met
NM_001190458.2:c.83C>T
NM_001193536.1:c.83C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh389286,591 - 286,591CLINVAR
GRCh379286,591 - 286,591CLINVAR
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 RCV000523205 CLINVAR
  RCV001230768 CLINVAR
dbSNP (RS) rs1442708191 CLINVAR
MedGen C4722305 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR