NM_203447.3(DOCK8):c.1839A>G (p.Glu613=)Rat Genome Database

Send us a Message



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

Variant : CV371280 (NM_203447.3(DOCK8):c.1839A>G (p.Glu613=)) Homo sapiens

Symbol: CV371280
Name: NM_203447.3(DOCK8):c.1839A>G (p.Glu613=)
RGD ID: 12846305
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000924336]|not specified [RCV000441397]
Clinical Significance: likely benign
Last Evaluated: 08/16/2018
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_196t1:c.1839A>G
LRG_196:g.160407A>G
NG_017007.1:g.160407A>G
NC_000009.12:g.370271A>G
NC_000009.11:g.370271A>G
LRG_196p1:p.Glu613=
NP_982272.2:p.Glu613=
NM_203447.3:c.1839A>G
NM_001190458.2:c.1635A>G
NM_001193536.1:c.1635A>G
NP_001177387.1:p.Glu545=
NP_001180465.1:p.Glu545=
Position
Human AssemblyChrPosition (strand)Source
GRCh389370,271 - 370,271CLINVAR
GRCh379370,271 - 370,271CLINVAR
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 RCV000441397 CLINVAR
  RCV000924336 CLINVAR
dbSNP (RS) rs377593459 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR