NM_203447.4(DOCK8):c.2110-5_2110-2delRat Genome Database

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Variant : CV851742 (NM_203447.4(DOCK8):c.2110-5_2110-2del) Homo sapiens

Symbol: CV851742
Name: NM_203447.4(DOCK8):c.2110-5_2110-2del
RGD ID: 26907411
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001052207]
Clinical Significance: uncertain significance
Last Evaluated: 01/01/2020
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: deletion (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: clinical testing
HGVS Name(s): LRG_196t1:c.2110-5_2110-2del
NM_001190458.2:c.1906-5_1906-2del
NM_001193536.1:c.1906-5_1906-2del
NM_203447.4:c.2110-5_2110-2del
LRG_196:g.166341_166344del
NG_017007.1:g.166341_166344del
NC_000009.12:g.376205_376208del
NC_000009.11:g.376205_376208del
NM_203447.3:c.2110-5_2110-2del
NC_000009.11:g.376204_376207del
Position
Human AssemblyChrPosition (strand)Source
GRCh389376,204 - 376,207CLINVAR
GRCh379376,204 - 376,207CLINVAR
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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001052207 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR