NM_203447.3(DOCK8):c.528+7C>ARat Genome Database

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Variant : CV370372 (NM_203447.3(DOCK8):c.528+7C>A) Homo sapiens

Symbol: CV370372
Name: NM_203447.3(DOCK8):c.528+7C>A
RGD ID: 12844249
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000534877]|not specified [RCV000437668]
Clinical Significance: benign
Last Evaluated: 02/19/2019
Review Status: 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.528+7C>A
NM_203447.3:c.528+7C>A
LRG_196:g.94847C>A
NG_017007.1:g.94847C>A
NC_000009.12:g.304711C>A
NC_000009.11:g.304711C>A
NM_001190458.2:c.324+7C>A
NM_001193536.1:c.324+7C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh389304,711 - 304,711CLINVAR
GRCh379304,711 - 304,711CLINVAR
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 RCV000437668 CLINVAR
  RCV000534877 CLINVAR
dbSNP (RS) rs114833839 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR