NM_203447.3(DOCK8):c.5493A>G (p.Ala1831=)Rat Genome Database

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Variant : CV783420 (NM_203447.3(DOCK8):c.5493A>G (p.Ala1831=)) Homo sapiens

Symbol: CV783420
Name: NM_203447.3(DOCK8):c.5493A>G (p.Ala1831=)
RGD ID: 15139973
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000982736]
Clinical Significance: likely benign
Last Evaluated: 12/19/2018
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001190458.2:c.5193A>G
NM_001193536.1:c.5289A>G
NM_203447.3:c.5493A>G
NG_017007.1:g.233565A>G
NC_000009.11:g.443429A>G
NP_001180465.1:p.Ala1763=
NC_000009.12:g.443429A>G
NP_001177387.1:p.Ala1731=
NP_982272.2:p.Ala1831=
LRG_196t1:c.5493A>G
LRG_196:g.233565A>G
LRG_196p1:p.Ala1831=
Position
Human AssemblyChrPosition (strand)Source
GRCh389443,429 - 443,429CLINVAR
GRCh379443,429 - 443,429CLINVAR
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 RCV000982736 CLINVAR
dbSNP (RS) rs755760356 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR