NM_203447.3(DOCK8):c.5154C>T (p.Cys1718=)Rat Genome Database

Send us a Message



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

Variant : CV140851 (NM_203447.3(DOCK8):c.5154C>T (p.Cys1718=)) Homo sapiens

Symbol: CV140851
Name: NM_203447.3(DOCK8):c.5154C>T (p.Cys1718=)
RGD ID: 8690897
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645172]|not specified [RCV000124777]
Clinical Significance: benign
Last Evaluated: 12/31/2019
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|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): NP_001177387.1:p.Cys1618=
LRG_196t1:c.5154C>T
LRG_196:g.229455C>T
NG_017007.1:g.229455C>T
NC_000009.12:g.439319C>T
NC_000009.11:g.439319C>T
LRG_196p1:p.Cys1718=
NP_982272.2:p.Cys1718=
NP_001180465.1:p.Cys1650=
NM_001193536.1:c.4950C>T
NM_203447.3:c.5154C>T
NM_001190458.2:c.4854C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh389439,319 - 439,319CLINVAR
GRCh379439,319 - 439,319CLINVAR
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 RCV000124777 CLINVAR
  RCV000645172 CLINVAR
dbSNP (RS) rs140431229 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR