NM_203447.3(DOCK8):c.180G>T (p.Glu60Asp)Rat Genome Database

Send us a Message



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

Variant : CV638183 (NM_203447.3(DOCK8):c.180G>T (p.Glu60Asp)) Homo sapiens

Symbol: CV638183
Name: NM_203447.3(DOCK8):c.180G>T (p.Glu60Asp)
RGD ID: 14706134
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000791898]
Clinical Significance: uncertain significance
Last Evaluated: 10/11/2018
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_017007.1:g.76620G>T
NC_000009.11:g.286484G>T
NM_001190458.2:c.-25G>T
NM_001193536.1:c.-25G>T
LRG_196:g.76620G>T
NC_000009.12:g.286484G>T
LRG_196p1:p.Glu60Asp
NP_982272.2:p.Glu60Asp
LRG_196t1:c.180G>T
NM_203447.3:c.180G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh389286,484 - 286,484CLINVAR
GRCh379286,484 - 286,484CLINVAR
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 RCV000791898 CLINVAR
dbSNP (RS) rs370107163 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR