NM_203447.3(DOCK8):c.559G>A (p.Asp187Asn)Rat Genome Database

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Variant : CV638191 (NM_203447.3(DOCK8):c.559G>A (p.Asp187Asn)) Homo sapiens

Symbol: CV638191
Name: NM_203447.3(DOCK8):c.559G>A (p.Asp187Asn)
RGD ID: 14729945
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000800749]
Clinical Significance: uncertain significance
Last Evaluated: 07/17/2018
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_203447.3:c.559G>A
LRG_196t1:c.559G>A
NM_001190458.2:c.355G>A
NM_001193536.1:c.355G>A
LRG_196:g.102120G>A
NG_017007.1:g.102120G>A
NC_000009.12:g.311984G>A
NC_000009.11:g.311984G>A
LRG_196p1:p.Asp187Asn
NP_001177387.1:p.Asp119Asn
NP_001180465.1:p.Asp119Asn
NP_982272.2:p.Asp187Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh389311,984 - 311,984CLINVAR
GRCh379311,984 - 311,984CLINVAR
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 RCV000800749 CLINVAR
dbSNP (RS) rs111842279 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR