NM_203447.4(DOCK8):c.3021T>C (p.Phe1007=)Rat Genome Database

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Variant : CV140845 (NM_203447.4(DOCK8):c.3021T>C (p.Phe1007=)) Homo sapiens

Symbol: CV140845
Name: NM_203447.4(DOCK8):c.3021T>C (p.Phe1007=)
RGD ID: 8690891
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000550542]|not specified [RCV000155530]
Clinical Significance: benign|likely benign
Last Evaluated: 03/06/2019
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): NP_001177387.1:p.Phe907=
NM_001190458.2:c.2721T>C
NM_203447.4:c.3021T>C
NP_982272.2:p.Phe1007=
LRG_196t1:c.3021T>C
NM_001193536.1:c.2817T>C
NP_001180465.1:p.Phe939=
LRG_196p1:p.Phe1007=
NM_203447.3:c.3021T>C
LRG_196:g.186971T>C
NG_017007.1:g.186971T>C
NC_000009.12:g.396835T>C
NC_000009.11:g.396835T>C
NP_982272.2:p.Phe1007=
p.Phe1007Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh389396,835 - 396,835CLINVAR
GRCh379396,835 - 396,835CLINVAR
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000155530 CLINVAR
  RCV000550542 CLINVAR
dbSNP (RS) rs7034926 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR