NM_203447.3(DOCK8):c.3790G>T (p.Ala1264Ser)Rat Genome Database

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Variant : CV319439 (NM_203447.3(DOCK8):c.3790G>T (p.Ala1264Ser)) Homo sapiens

Symbol: CV319439
Name: NM_203447.3(DOCK8):c.3790G>T (p.Ala1264Ser)
RGD ID: 11650104
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000290973]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
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.3790G>T
LRG_196:g.208293G>T
NG_017007.1:g.208293G>T
NC_000009.12:g.418157G>T
NC_000009.11:g.418157G>T
LRG_196p1:p.Ala1264Ser
NP_982272.2:p.Ala1264Ser
NM_203447.3:c.3790G>T
NM_001190458.2:c.3490G>T
NM_001193536.1:c.3586G>T
NP_001177387.1:p.Ala1164Ser
NP_001180465.1:p.Ala1196Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh389418,157 - 418,157CLINVAR
GRCh379418,157 - 418,157CLINVAR
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 RCV000290973 CLINVAR
dbSNP (RS) rs886063955 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR