NM_203447.4(DOCK8):c.470C>T (p.Thr157Met)Rat Genome Database

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Variant : CV901881 (NM_203447.4(DOCK8):c.470C>T (p.Thr157Met)) Homo sapiens

Symbol: CV901881
Name: NM_203447.4(DOCK8):c.470C>T (p.Thr157Met)
RGD ID: 28879155
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001166957]
Clinical Significance: likely benign
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): NP_001177387.1:p.Thr89Met
NP_001180465.1:p.Thr89Met
NM_203447.4:c.470C>T
NC_000009.11:g.304646C>T
NM_203447.3:c.470C>T
NP_982272.2:p.Thr157Met
LRG_196:g.94782C>T
NG_017007.1:g.94782C>T
NC_000009.12:g.304646C>T
LRG_196t1:c.470C>T
NM_001190458.2:c.266C>T
NM_001193536.1:c.266C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh389304,646 - 304,646CLINVAR
GRCh379304,646 - 304,646CLINVAR
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 RCV001166957 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR