NM_203447.3(DOCK8):c.5058C>T (p.Pro1686=)Rat Genome Database

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Variant : CV525172 (NM_203447.3(DOCK8):c.5058C>T (p.Pro1686=)) Homo sapiens

Symbol: CV525172
Name: NM_203447.3(DOCK8):c.5058C>T (p.Pro1686=)
RGD ID: 13617099
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645165]
Clinical Significance: likely benign
Last Evaluated: 11/17/2018
Review Status: 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): LRG_196t1:c.5058C>T
LRG_196:g.225090C>T
NG_017007.1:g.225090C>T
NC_000009.12:g.434954C>T
NC_000009.11:g.434954C>T
LRG_196p1:p.Pro1686=
NP_982272.2:p.Pro1686=
NM_001190458.2:c.4758C>T
NM_001193536.1:c.4854C>T
NP_001177387.1:p.Pro1586=
NP_001180465.1:p.Pro1618=
NM_203447.3:c.5058C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh389434,954 - 434,954CLINVAR
GRCh379434,954 - 434,954CLINVAR
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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000645165 CLINVAR
dbSNP (RS) rs190854825 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR