NM_203447.4(DOCK8):c.2916C>T (p.Thr972=)Rat Genome Database

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Variant : CV140844 (NM_203447.4(DOCK8):c.2916C>T (p.Thr972=)) Homo sapiens

Symbol: CV140844
Name: NM_203447.4(DOCK8):c.2916C>T (p.Thr972=)
RGD ID: 8690890
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000379965]|not specified [RCV000155529]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|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): NM_001190458.2:c.2616C>T
NM_001190458.1:c.2616C>T
NM_203447.4:c.2916C>T
NP_982272.2:p.Thr972=
LRG_196t1:c.2916C>T
NM_001193536.1:c.2712C>T
NP_001180465.1:p.Thr904=
LRG_196p1:p.Thr972=
LRG_196:g.180648C>T
NG_017007.1:g.180648C>T
NC_000009.12:g.390512C>T
NC_000009.11:g.390512C>T
NP_982272.2:p.Thr972=
p.Thr972Thr
NM_203447.3:c.2916C>T
NP_001177387.1:p.Thr872=
Position
Human AssemblyChrPosition (strand)Source
GRCh389390,512 - 390,512CLINVAR
GRCh379390,512 - 390,512CLINVAR
Cytogenetic Map99p24.3CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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:24033266   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000155529 CLINVAR
  RCV000379965 CLINVAR
dbSNP (RS) rs2297075 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR