NM_203447.3(DOCK8):c.1623C>G (p.His541Gln)Rat Genome Database

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Variant : CV319005 (NM_203447.3(DOCK8):c.1623C>G (p.His541Gln)) Homo sapiens

Symbol: CV319005
Name: NM_203447.3(DOCK8):c.1623C>G (p.His541Gln)
RGD ID: 11600674
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000822154]
Clinical Significance: uncertain significance
Last Evaluated: 10/19/2019
Review Status: criteria provided, multiple submitters, no conflicts|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.1419C>G
LRG_196t1:c.1623C>G
LRG_196:g.130401C>G
NG_017007.1:g.130401C>G
NC_000009.12:g.340265C>G
NC_000009.11:g.340265C>G
LRG_196p1:p.His541Gln
NP_982272.2:p.His541Gln
NM_001193536.1:c.1419C>G
NP_001177387.1:p.His473Gln
NP_001180465.1:p.His473Gln
NM_203447.3:c.1623C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh389340,265 - 340,265CLINVAR
GRCh379340,265 - 340,265CLINVAR
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 RCV000822154 CLINVAR
dbSNP (RS) rs200201944 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR