NM_203447.4(DOCK8):c.5288G>A (p.Arg1763Gln)Rat Genome Database

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Variant : CV902208 (NM_203447.4(DOCK8):c.5288G>A (p.Arg1763Gln)) Homo sapiens

Symbol: CV902208
Name: NM_203447.4(DOCK8):c.5288G>A (p.Arg1763Gln)
RGD ID: 28885311
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001168737]
Clinical Significance: uncertain significance
Last Evaluated: 01/13/2018
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_196t1:c.5288G>A
NM_001190458.2:c.4988G>A
NC_000009.11:g.441350G>A
NP_982272.2:p.Arg1763Gln
NM_001193536.1:c.5084G>A
NG_017007.1:g.231486G>A
NM_203447.4:c.5288G>A
LRG_196:g.231486G>A
NC_000009.12:g.441350G>A
NM_203447.3:c.5288G>A
NP_001177387.1:p.Arg1663Gln
NP_001180465.1:p.Arg1695Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh389441,350 - 441,350CLINVAR
GRCh379441,350 - 441,350CLINVAR
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 Information

Database Acc Id Source(s)
ClinVar RCV001168737 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR