NM_203447.3(DOCK8):c.2779A>G (p.Ile927Val)Rat Genome Database

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Variant : CV444500 (NM_203447.3(DOCK8):c.2779A>G (p.Ile927Val)) Homo sapiens

Symbol: CV444500
Name: NM_203447.3(DOCK8):c.2779A>G (p.Ile927Val)
RGD ID: 13482738
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001225415]|not provided [RCV000521870]
Clinical Significance: uncertain significance
Last Evaluated: 11/06/2019
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_196t1:c.2779A>G
LRG_196:g.176467A>G
NG_017007.1:g.176467A>G
NC_000009.12:g.386331A>G
NC_000009.11:g.386331A>G
LRG_196p1:p.Ile927Val
NP_982272.2:p.Ile927Val
NM_203447.3:c.2779A>G
NM_001190458.2:c.2574+3646A>G
NM_001193536.1:c.2575A>G
NP_001180465.1:p.Ile859Val
Position
Human AssemblyChrPosition (strand)Source
GRCh389386,331 - 386,331CLINVAR
GRCh379386,331 - 386,331CLINVAR
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 RCV000521870 CLINVAR
  RCV001225415 CLINVAR
dbSNP (RS) rs759239515 CLINVAR
MedGen C4722305 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR