NM_203447.4(DOCK8):c.699T>C (p.Asn233=)Rat Genome Database

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Variant : CV140860 (NM_203447.4(DOCK8):c.699T>C (p.Asn233=)) Homo sapiens

Symbol: CV140860
Name: NM_203447.4(DOCK8):c.699T>C (p.Asn233=)
RGD ID: 8690905
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000314699]|not specified [RCV000150506]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_203447.3:c.699T>C
NP_982272.2:p.Asn233=
NM_203447.4:c.699T>C
LRG_196t1:c.699T>C
NP_001180465.1:p.Asn165=
NM_001193536.1:c.495T>C
LRG_196p1:p.Asn233=
NM_001190458.2:c.495T>C
NP_001177387.1:p.Asn165=
LRG_196:g.102260T>C
NG_017007.1:g.102260T>C
NC_000009.12:g.312124T>C
NC_000009.11:g.312124T>C
NP_982272.2:p.Asn233=
p.Asn233Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh389312,124 - 312,124CLINVAR
GRCh379312,124 - 312,124CLINVAR
Cytogenetic Map99p24.3CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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:24033266   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000150506 CLINVAR
  RCV000314699 CLINVAR
dbSNP (RS) rs2039045 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR