NM_203447.3(DOCK8):c.4148C>G (p.Ala1383Gly)Rat Genome Database

Send us a Message



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

Variant : CV318805 (NM_203447.3(DOCK8):c.4148C>G (p.Ala1383Gly)) Homo sapiens

Symbol: CV318805
Name: NM_203447.3(DOCK8):c.4148C>G (p.Ala1383Gly)
RGD ID: 11611167
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000391173]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: 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_196t1:c.4148C>G
LRG_196:g.211209C>G
NG_017007.1:g.211209C>G
NC_000009.12:g.421073C>G
NC_000009.11:g.421073C>G
LRG_196p1:p.Ala1383Gly
NP_982272.2:p.Ala1383Gly
NM_001190458.2:c.3848C>G
NM_001193536.1:c.3944C>G
NP_001177387.1:p.Ala1283Gly
NP_001180465.1:p.Ala1315Gly
NM_203447.3:c.4148C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh389421,073 - 421,073CLINVAR
GRCh379421,073 - 421,073CLINVAR
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 Information

Database Acc Id Source(s)
ClinVar RCV000391173 CLINVAR
dbSNP (RS) rs745583957 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR