NM_203447.4(DOCK8):c.5282C>T (p.Ala1761Val)Rat Genome Database

Send us a Message



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

Variant : CV925618 (NM_203447.4(DOCK8):c.5282C>T (p.Ala1761Val)) Homo sapiens

Symbol: CV925618
Name: NM_203447.4(DOCK8):c.5282C>T (p.Ala1761Val)
RGD ID: 38476956
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001215907]
Clinical Significance: uncertain significance
Last Evaluated: 06/29/2019
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.5282C>T
NM_001190458.2:c.4982C>T
NM_001193536.1:c.5078C>T
NM_203447.4:c.5282C>T
LRG_196:g.231480C>T
NG_017007.1:g.231480C>T
NC_000009.12:g.441344C>T
NC_000009.11:g.441344C>T
NM_203447.3:c.5282C>T
NP_001177387.1:p.Ala1661Val
NP_001180465.1:p.Ala1693Val
NP_982272.2:p.Ala1761Val
Position
Human AssemblyChrPosition (strand)Source
GRCh389441,344 - 441,344CLINVAR
GRCh379441,344 - 441,344CLINVAR
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 RCV001215907 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR