NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=)Rat Genome Database

Send us a Message



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

Variant : CV175111 (NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=)) Homo sapiens

Symbol: CV175111
Name: NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=)
RGD ID: 9689903
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000210048]|not specified [RCV000155533]
Clinical Significance: benign
Last Evaluated: 06/14/2016
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): LRG_196t1:c.4107C>G
NM_203447.4:c.4107C>G
NP_982272.2:p.Leu1369=
LRG_196p1:p.Leu1369=
LRG_196:g.211168C>G
NG_017007.1:g.211168C>G
NC_000009.12:g.421032C>G
NC_000009.11:g.421032C>G
p.Leu1369Leu
NP_982272.2:p.Leu1369=
NM_203447.3:c.4107C>G
NM_001190458.2:c.3807C>G
NM_001193536.1:c.3903C>G
NP_001177387.1:p.Leu1269=
NP_001180465.1:p.Leu1301=
Position
Human AssemblyChrPosition (strand)Source
GRCh389421,032 - 421,032CLINVAR
GRCh379421,032 - 421,032CLINVAR
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
Age Of Onset: infancy|neonatal
Prevalence: <1 / 1 000 000



Disease Annotations     Click to see Annotation Detail View


References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:26680607  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000155533 CLINVAR
  RCV000210048 CLINVAR
dbSNP (RS) rs2297079 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR