NM_203447.4(DOCK8):c.3178C>G (p.Leu1060Val)Rat Genome Database

Send us a Message



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

Variant : CV946646 (NM_203447.4(DOCK8):c.3178C>G (p.Leu1060Val)) Homo sapiens

Symbol: CV946646
Name: NM_203447.4(DOCK8):c.3178C>G (p.Leu1060Val)
RGD ID: 38460481
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001229359]
Clinical Significance: uncertain significance
Last Evaluated: 07/25/2019
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): NM_001193536.1:c.2974C>G
NG_017007.1:g.189339C>G
NC_000009.12:g.399203C>G
NC_000009.11:g.399203C>G
LRG_196t1:c.3178C>G
NP_001180465.1:p.Leu992Val
NM_001190458.2:c.2878C>G
NM_203447.4:c.3178C>G
LRG_196:g.189339C>G
NM_203447.3:c.3178C>G
NP_982272.2:p.Leu1060Val
NP_001177387.1:p.Leu960Val
Position
Human AssemblyChrPosition (strand)Source
GRCh389399,203 - 399,203CLINVAR
GRCh379399,203 - 399,203CLINVAR
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 RCV001229359 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR