NM_203447.3(DOCK8):c.679G>A (p.Glu227Lys)Rat Genome Database

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Variant : CV503370 (NM_203447.3(DOCK8):c.679G>A (p.Glu227Lys)) Homo sapiens

Symbol: CV503370
Name: NM_203447.3(DOCK8):c.679G>A (p.Glu227Lys)
RGD ID: 13541814
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000967383]|not specified [RCV000616677]
Clinical Significance: benign
Last Evaluated: 12/31/2019
Review Status: criteria provided, multiple submitters, no conflicts|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): NM_001193536.1:c.475G>A
NP_001177387.1:p.Glu159Lys
NP_001180465.1:p.Glu159Lys
NM_203447.3:c.679G>A
LRG_196t1:c.679G>A
LRG_196:g.102240G>A
NG_017007.1:g.102240G>A
NC_000009.12:g.312104G>A
NC_000009.11:g.312104G>A
LRG_196p1:p.Glu227Lys
NP_982272.2:p.Glu227Lys
NM_001190458.2:c.475G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh389312,104 - 312,104CLINVAR
GRCh379312,104 - 312,104CLINVAR
Cytogenetic Map99p24.3CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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 RCV000616677 CLINVAR
  RCV000967383 CLINVAR
dbSNP (RS) rs76276364 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR