NM_203447.3(DOCK8):c.5355+6C>TRat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV370956 (NM_203447.3(DOCK8):c.5355+6C>T) Homo sapiens

Symbol: CV370956
Name: NM_203447.3(DOCK8):c.5355+6C>T
RGD ID: 12837105
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000964303]|not specified [RCV000424588]
Clinical Significance: benign|likely benign
Last Evaluated: 12/31/2019
Review Status: criteria provided, multiple submitters, no conflicts|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.5355+6C>T
NM_203447.3:c.5355+6C>T
LRG_196:g.231559C>T
NG_017007.1:g.231559C>T
NC_000009.12:g.441423C>T
NC_000009.11:g.441423C>T
NM_001190458.2:c.5055+6C>T
NM_001193536.1:c.5151+6C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh389441,423 - 441,423CLINVAR
GRCh379441,423 - 441,423CLINVAR
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 RCV000424588 CLINVAR
  RCV000964303 CLINVAR
dbSNP (RS) rs188141951 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR