NM_203447.3(DOCK8):c.-113C>TRat Genome Database

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Variant : CV353855 (NM_203447.3(DOCK8):c.-113C>T) Homo sapiens

Symbol: CV353855
Name: NM_203447.3(DOCK8):c.-113C>T
RGD ID: 11665981
Condition: Hyper-IgE syndrome [RCV000306874]|not provided [RCV000833524]
Clinical Significance: benign
Last Evaluated: 06/14/2018
Review Status: criteria provided, single submitter
Related Genes: DOCK8   DOCK8-AS1  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|non-coding transcript variant
Evidence: clinical testing
HGVS Name(s): LRG_196:g.5000C>T
NG_017007.1:g.5000C>T
NC_000009.12:g.214864C>T
NC_000009.11:g.214864C>T
NR_160804.1:n.887G>A
LRG_196t1:c.-113C>T
NM_203447.3:c.-113C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh389214,864 - 214,864CLINVAR
GRCh379214,864 - 214,864CLINVAR
Cytogenetic Map99p24.3CLINVAR



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV000306874 CLINVAR
  RCV000833524 CLINVAR
dbSNP (RS) rs2236547 CLINVAR
MedGen C3887645 CLINVAR
  CN517202 CLINVAR
NCBI Gene C9orf66 CLINVAR
  DOCK8 CLINVAR
OMIM 611432 CLINVAR