NM_203447.3(DOCK8):c.1979C>A (p.Ala660Asp)Rat Genome Database

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Variant : CV415196 (NM_203447.3(DOCK8):c.1979C>A (p.Ala660Asp)) Homo sapiens

Symbol: CV415196
Name: NM_203447.3(DOCK8):c.1979C>A (p.Ala660Asp)
RGD ID: 12906748
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001167344]|not provided [RCV000489600]
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.1979C>A
LRG_196:g.161674C>A
NG_017007.1:g.161674C>A
NC_000009.12:g.371538C>A
NC_000009.11:g.371538C>A
LRG_196p1:p.Ala660Asp
NP_982272.2:p.Ala660Asp
NM_203447.3:c.1979C>A
NM_001190458.2:c.1775C>A
NM_001193536.1:c.1775C>A
NP_001177387.1:p.Ala592Asp
NP_001180465.1:p.Ala592Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh389371,538 - 371,538CLINVAR
GRCh379371,538 - 371,538CLINVAR
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 RCV000489600 CLINVAR
  RCV001167344 CLINVAR
dbSNP (RS) rs550289472 CLINVAR
MedGen C4722305 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR