NM_203447.3(DOCK8):c.393C>T (p.Ile131=)Rat Genome Database

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Variant : CV372971 (NM_203447.3(DOCK8):c.393C>T (p.Ile131=)) Homo sapiens

Symbol: CV372971
Name: NM_203447.3(DOCK8):c.393C>T (p.Ile131=)
RGD ID: 12844436
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645174]|not specified [RCV000437983]
Clinical Significance: likely benign
Last Evaluated: 11/06/2017
Review Status: 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): LRG_196t1:c.393C>T
LRG_196:g.79706C>T
NG_017007.1:g.79706C>T
NC_000009.12:g.289570C>T
NC_000009.11:g.289570C>T
LRG_196p1:p.Ile131=
NP_982272.2:p.Ile131=
NM_001193536.1:c.189C>T
NP_001180465.1:p.Ile63=
NM_001190458.2:c.189C>T
NP_001177387.1:p.Ile63=
NM_203447.3:c.393C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh389289,570 - 289,570CLINVAR
GRCh379289,570 - 289,570CLINVAR
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000437983 CLINVAR
  RCV000645174 CLINVAR
dbSNP (RS) rs139097471 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR