NM_203447.4(DOCK8):c.2007+5G>ARat Genome Database

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Variant : CV959919 (NM_203447.4(DOCK8):c.2007+5G>A) Homo sapiens

Symbol: CV959919
Name: NM_203447.4(DOCK8):c.2007+5G>A
RGD ID: 38478672
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001233989]
Clinical Significance: uncertain significance
Last Evaluated: 09/26/2019
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): LRG_196t1:c.2007+5G>A
NM_001190458.2:c.1803+5G>A
NM_001193536.1:c.1803+5G>A
NM_203447.4:c.2007+5G>A
LRG_196:g.161707G>A
NG_017007.1:g.161707G>A
NC_000009.12:g.371571G>A
NC_000009.11:g.371571G>A
NM_203447.3:c.2007+5G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh389371,571 - 371,571CLINVAR
GRCh379371,571 - 371,571CLINVAR
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001233989 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR