NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)Rat Genome Database

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Variant : CV359811 (NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)) Homo sapiens

Symbol: CV359811
Name: NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)
RGD ID: 12741184
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645180]|not specified [RCV000414337]
Clinical Significance: benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 12/31/2019
Review Status: criteria provided, conflicting interpretations|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.210715A>G
NG_017007.1:g.210715A>G
NC_000009.12:g.420579A>G
NC_000009.11:g.420579A>G
NP_982272.2:p.Tyr1340Cys
NP_001177387.1:p.Tyr1240Cys
NP_982272.2:p.Tyr1340Cys
NM_203447.4:c.4019A>G
LRG_196t1:c.4019A>G
NM_001193536.1:c.3815A>G
NP_001180465.1:p.Tyr1272Cys
LRG_196p1:p.Tyr1340Cys
NM_203447.3:c.4019A>G
NM_001190458.2:c.3719A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh389420,579 - 420,579CLINVAR
GRCh379420,579 - 420,579CLINVAR
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:16391785   PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000414337 CLINVAR
  RCV000645180 CLINVAR
dbSNP (RS) rs116920018 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR