NM_203447.4(DOCK8):c.4241+19T>GRat Genome Database

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Variant : CV920273 (NM_203447.4(DOCK8):c.4241+19T>G) Homo sapiens

Symbol: CV920273
Name: NM_203447.4(DOCK8):c.4241+19T>G
RGD ID: 38463736
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001199259]
Clinical Significance: uncertain significance
Last Evaluated: 07/01/2019
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001190458.2:c.3941+19T>G
NM_001193536.1:c.4037+19T>G
NM_203447.4:c.4241+19T>G
LRG_196:g.212290T>G
NG_017007.1:g.212290T>G
NC_000009.12:g.422154T>G
NC_000009.11:g.422154T>G
NM_203447.3:c.4241+19T>G
LRG_196t1:c.4241+19T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh389422,154 - 422,154CLINVAR
GRCh379422,154 - 422,154CLINVAR
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  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001199259 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR