NM_203447.3(DOCK8):c.15G>A (p.Pro5=)Rat Genome Database

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Variant : CV723534 (NM_203447.3(DOCK8):c.15G>A (p.Pro5=)) Homo sapiens

Symbol: CV723534
Name: NM_203447.3(DOCK8):c.15G>A (p.Pro5=)
RGD ID: 15175112
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000884289]
Clinical Significance: benign
Last Evaluated: 02/08/2019
Review Status: criteria provided, single submitter
Related Genes: DOCK8   DOCK8-AS1  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant
Evidence: clinical testing
HGVS Name(s): NM_203447.3:c.15G>A
NG_017007.1:g.5127G>A
NC_000009.12:g.214991G>A
NC_000009.11:g.214991G>A
NR_160804.1:n.760C>T
NP_982272.2:p.Pro5=
LRG_196p1:p.Pro5=
LRG_196t1:c.15G>A
LRG_196:g.5127G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh389214,991 - 214,991CLINVAR
GRCh379214,991 - 214,991CLINVAR
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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000884289 CLINVAR
dbSNP (RS) rs148276394 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
  DOCK8-AS1 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR