NM_203447.3(DOCK8):c.280G>C (p.Val94Leu)Rat Genome Database

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Variant : CV524510 (NM_203447.3(DOCK8):c.280G>C (p.Val94Leu)) Homo sapiens

Symbol: CV524510
Name: NM_203447.3(DOCK8):c.280G>C (p.Val94Leu)
RGD ID: 13617086
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645155]
Clinical Significance: uncertain significance
Last Evaluated: 09/20/2017
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): LRG_196t1:c.280G>C
LRG_196:g.76720G>C
NG_017007.1:g.76720G>C
NC_000009.12:g.286584G>C
NC_000009.11:g.286584G>C
LRG_196p1:p.Val94Leu
NP_982272.2:p.Val94Leu
NM_001190458.2:c.76G>C
NM_001193536.1:c.76G>C
NP_001177387.1:p.Val26Leu
NP_001180465.1:p.Val26Leu
NM_203447.3:c.280G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh389286,584 - 286,584CLINVAR
GRCh379286,584 - 286,584CLINVAR
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 RCV000645155 CLINVAR
dbSNP (RS) rs1554655875 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR