NM_203447.3(DOCK8):c.3234+15delRat Genome Database

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Variant : CV319408 (NM_203447.3(DOCK8):c.3234+15del) Homo sapiens

Symbol: CV319408
Name: NM_203447.3(DOCK8):c.3234+15del
RGD ID: 11604086
Condition: Hyper-IgE syndrome [RCV000306049]|not specified [RCV000484654]
Clinical Significance: likely benign
Last Evaluated: 12/23/2016
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: deletion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_196t1:c.3234+15del
NC_000009.12:g.399274del
NM_203447.3:c.3234+15delC
NM_001190458.2:c.2934+15del
NM_203447.3:c.3234+15del
NM_001193536.1:c.3030+15del
NG_017007.1:g.189410del
NC_000009.11:g.399274del
LRG_196:g.189410del
Position
Human AssemblyChrPosition (strand)Source
GRCh389399,268 - 399,268CLINVAR
GRCh379399,268 - 399,268CLINVAR
Cytogenetic Map99p24.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV000306049 CLINVAR
  RCV000484654 CLINVAR
dbSNP (RS) rs375864618 CLINVAR
MedGen C3887645 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 611432 CLINVAR