NM_203447.4(DOCK8):c.3947T>C (p.Ile1316Thr)Rat Genome Database

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Variant : CV925616 (NM_203447.4(DOCK8):c.3947T>C (p.Ile1316Thr)) Homo sapiens

Symbol: CV925616
Name: NM_203447.4(DOCK8):c.3947T>C (p.Ile1316Thr)
RGD ID: 38473097
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001214320]
Clinical Significance: uncertain significance
Last Evaluated: 06/07/2019
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_001193536.1:c.3743T>C
NC_000009.11:g.420507T>C
NM_203447.3:c.3947T>C
NP_001177387.1:p.Ile1216Thr
NP_001180465.1:p.Ile1248Thr
NP_982272.2:p.Ile1316Thr
NG_017007.1:g.210643T>C
NC_000009.12:g.420507T>C
LRG_196t1:c.3947T>C
NM_001190458.2:c.3647T>C
NM_203447.4:c.3947T>C
LRG_196:g.210643T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh389420,507 - 420,507CLINVAR
GRCh379420,507 - 420,507CLINVAR
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 RCV001214320 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR