NM_203447.3(DOCK8):c.53+11C>TRat Genome Database

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Variant : CV312198 (NM_203447.3(DOCK8):c.53+11C>T) Homo sapiens

Symbol: CV312198
Name: NM_203447.3(DOCK8):c.53+11C>T
RGD ID: 11609841
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000373258]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: DOCK8   DOCK8-AS1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_196t1:c.53+11C>T
NM_203447.3:c.53+11C>T
LRG_196:g.5176C>T
NG_017007.1:g.5176C>T
NC_000009.12:g.215040C>T
NC_000009.11:g.215040C>T
NR_160804.1:n.711G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh389215,040 - 215,040CLINVAR
GRCh379215,040 - 215,040CLINVAR
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 Information

Database Acc Id Source(s)
ClinVar RCV000373258 CLINVAR
dbSNP (RS) rs764626266 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene C9orf66 CLINVAR
  DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR