NM_203447.3(DOCK8):c.3234+8T>CRat Genome Database

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Variant : CV140848 (NM_203447.3(DOCK8):c.3234+8T>C) Homo sapiens

Symbol: CV140848
Name: NM_203447.3(DOCK8):c.3234+8T>C
RGD ID: 8690894
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000967792]|not specified [RCV000124774]
Clinical Significance: benign
Last Evaluated: 10/24/2018
Review Status: classified by single submitter|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.2934+8T>C
LRG_196t1:c.3234+8T>C
NM_001193536.1:c.3030+8T>C
NM_203447.3:c.3234+8T>C
LRG_196:g.189403T>C
NG_017007.1:g.189403T>C
NC_000009.12:g.399267T>C
NC_000009.11:g.399267T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh389399,267 - 399,267CLINVAR
GRCh379399,267 - 399,267CLINVAR
Cytogenetic Map99p24.3CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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 RCV000124774 CLINVAR
  RCV000967792 CLINVAR
dbSNP (RS) rs112290938 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR