NM_203447.4(DOCK8):c.472C>G (p.Leu158Val)Rat Genome Database

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Variant : CV1008609 (NM_203447.4(DOCK8):c.472C>G (p.Leu158Val)) Homo sapiens

Symbol: CV1008609
Name: NM_203447.4(DOCK8):c.472C>G (p.Leu158Val)
RGD ID: 126754449
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001327511]
Clinical Significance: uncertain significance
Last Evaluated: 04/06/2020
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_001190458.2:c.268C>G
NP_001180465.1:p.Leu90Val
NM_001193536.2:c.268C>G
NM_203447.4:c.472C>G
LRG_196:g.94784C>G
NG_017007.1:g.94784C>G
NC_000009.12:g.304648C>G
NC_000009.11:g.304648C>G
NP_982272.2:p.Leu158Val
NP_001177387.1:p.Leu90Val
Position
Human AssemblyChrPosition (strand)Source
GRCh389304,648 - 304,648CLINVAR
GRCh379304,648 - 304,648CLINVAR
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 RCV001327511 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR