NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter)Rat Genome Database

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Variant : CV934784 (NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter)) Homo sapiens

Symbol: CV934784
Name: NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter)
RGD ID: 38457815
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001211232]
Clinical Significance: pathogenic
Last Evaluated: 10/31/2019
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NG_017007.1:g.161658C>T
NP_001177387.1:p.Gln587Ter
NP_001180465.1:p.Gln587Ter
LRG_196t1:c.1963C>T
NM_203447.4:c.1963C>T
LRG_196:g.161658C>T
NM_001190458.2:c.1759C>T
NM_001193536.1:c.1759C>T
NC_000009.12:g.371522C>T
NC_000009.11:g.371522C>T
NM_203447.3:c.1963C>T
NP_982272.2:p.Gln655Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh389371,522 - 371,522CLINVAR
GRCh379371,522 - 371,522CLINVAR
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:14722525   PMID:19776401   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001211232 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR