NM_203447.3(DOCK8):c.3216C>G (p.Ile1072Met)Rat Genome Database

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Variant : CV614346 (NM_203447.3(DOCK8):c.3216C>G (p.Ile1072Met)) Homo sapiens

Symbol: CV614346
Name: NM_203447.3(DOCK8):c.3216C>G (p.Ile1072Met)
RGD ID: 14399131
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000768200]
Clinical Significance: uncertain significance
Last Evaluated: 09/28/2018
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): NM_203447.3:c.3216C>G
NG_017007.1:g.189377C>G
NC_000009.11:g.399241C>G
LRG_196t1:c.3216C>G
LRG_196:g.189377C>G
NC_000009.12:g.399241C>G
LRG_196p1:p.Ile1072Met
NP_982272.2:p.Ile1072Met
NM_001190458.2:c.2916C>G
NM_001193536.1:c.3012C>G
NP_001180465.1:p.Ile1004Met
NP_001177387.1:p.Ile972Met
Position
Human AssemblyChrPosition (strand)Source
GRCh389399,241 - 399,241CLINVAR
GRCh379399,241 - 399,241CLINVAR
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000768200 CLINVAR
dbSNP (RS) rs370250940 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR