NM_203447.4(DOCK8):c.4283A>G (p.Asn1428Ser)Rat Genome Database

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Variant : CV836193 (NM_203447.4(DOCK8):c.4283A>G (p.Asn1428Ser)) Homo sapiens

Symbol: CV836193
Name: NM_203447.4(DOCK8):c.4283A>G (p.Asn1428Ser)
RGD ID: 26886959
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001066385]
Clinical Significance: uncertain significance
Last Evaluated: 09/11/2019
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): NP_001177387.1:p.Asn1328Ser
NP_001180465.1:p.Asn1360Ser
LRG_196t1:c.4283A>G
NM_203447.4:c.4283A>G
LRG_196:g.217062A>G
NP_982272.2:p.Asn1428Ser
NM_001190458.2:c.3983A>G
NM_001193536.1:c.4079A>G
NG_017007.1:g.217062A>G
NC_000009.12:g.426926A>G
NC_000009.11:g.426926A>G
NM_203447.3:c.4283A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh389426,926 - 426,926CLINVAR
GRCh379426,926 - 426,926CLINVAR
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 RCV001066385 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR