NM_203447.3(DOCK8):c.54-1G>TRat Genome Database

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Variant : CV259926 (NM_203447.3(DOCK8):c.54-1G>T) Homo sapiens

Symbol: CV259926
Name: NM_203447.3(DOCK8):c.54-1G>T
RGD ID: 11560253
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645149]|Intellectual disability [RCV001251745]|not provided [RCV000256030]|not specified [RCV000825915]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 01/01/2019
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0002153)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|genic upstream transcript variant
Evidence: clinical testing
HGVS Name(s): LRG_196t1:c.54-1G>T
NM_001193536.1:c.-1523G>T
NM_203447.3:c.54-1G>T
LRG_196:g.61762G>T
NG_017007.1:g.61762G>T
NC_000009.12:g.271626G>T
NC_000009.11:g.271626G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh389271,626 - 271,626CLINVAR
GRCh379271,626 - 271,626CLINVAR
Cytogenetic Map99p24.3CLINVAR
Trait Synonyms: AllHighlyPenetrant; AR hyperimmunoglobulin E syndrome; Dull intelligence; HIES autosomal recessive; Hyper Ig E syndrome, autosomal recessive; HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE; Intellectual functioning disability; Low intelligence; Mental deficiency; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Additional References at PubMed
PMID:14722525   PMID:16199547   PMID:18060736   PMID:19776401   PMID:24033266   PMID:25724123   PMID:25741868   PMID:26046366   PMID:26744459   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000256030 CLINVAR
  RCV000645149 CLINVAR
  RCV000825915 CLINVAR
  RCV001251745 CLINVAR
dbSNP (RS) rs192864327 CLINVAR
MedGen C3714756 CLINVAR
  C4722305 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR
SNOMED CT 228156007 CLINVAR