NM_203447.3(DOCK8):c.1881T>C (p.Phe627=)Rat Genome Database

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Variant : CV373060 (NM_203447.3(DOCK8):c.1881T>C (p.Phe627=)) Homo sapiens

Symbol: CV373060
Name: NM_203447.3(DOCK8):c.1881T>C (p.Phe627=)
RGD ID: 12835377
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645162]|not specified [RCV000421559]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 12/31/2019
Review Status: criteria provided, conflicting interpretations|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.1881T>C
LRG_196:g.161576T>C
NG_017007.1:g.161576T>C
NC_000009.12:g.371440T>C
NC_000009.11:g.371440T>C
LRG_196p1:p.Phe627=
NP_982272.2:p.Phe627=
NM_001190458.2:c.1677T>C
NP_001180465.1:p.Phe559=
NM_001193536.1:c.1677T>C
NM_203447.3:c.1881T>C
NP_001177387.1:p.Phe559=
Position
Human AssemblyChrPosition (strand)Source
GRCh389371,440 - 371,440CLINVAR
GRCh379371,440 - 371,440CLINVAR
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 RCV000421559 CLINVAR
  RCV000645162 CLINVAR
dbSNP (RS) rs140134223 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR