NM_203447.4(DOCK8):c.2607C>T (p.Gly869=)Rat Genome Database

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Variant : CV934790 (NM_203447.4(DOCK8):c.2607C>T (p.Gly869=)) Homo sapiens

Symbol: CV934790
Name: NM_203447.4(DOCK8):c.2607C>T (p.Gly869=)
RGD ID: 38472649
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001214151]
Clinical Significance: uncertain significance
Last Evaluated: 08/28/2019
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): NP_982272.2:p.Gly869=
NM_001190458.2:c.2403C>T
NM_001193536.1:c.2403C>T
LRG_196:g.172650C>T
NG_017007.1:g.172650C>T
NC_000009.12:g.382514C>T
NC_000009.11:g.382514C>T
NM_203447.3:c.2607C>T
NP_001177387.1:p.Gly801=
NP_001180465.1:p.Gly801=
LRG_196t1:c.2607C>T
NM_203447.4:c.2607C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh389382,514 - 382,514CLINVAR
GRCh379382,514 - 382,514CLINVAR
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 RCV001214151 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR