NM_203447.3(DOCK8):c.5184G>C (p.Leu1728=)Rat Genome Database

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Variant : CV524869 (NM_203447.3(DOCK8):c.5184G>C (p.Leu1728=)) Homo sapiens

Symbol: CV524869
Name: NM_203447.3(DOCK8):c.5184G>C (p.Leu1728=)
RGD ID: 13617108
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645183]
Clinical Significance: likely benign
Last Evaluated: 11/02/2017
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.5184G>C
LRG_196:g.229485G>C
NG_017007.1:g.229485G>C
NC_000009.12:g.439349G>C
NC_000009.11:g.439349G>C
LRG_196p1:p.Leu1728=
NP_982272.2:p.Leu1728=
NM_001190458.2:c.4884G>C
NM_001193536.1:c.4980G>C
NP_001177387.1:p.Leu1628=
NP_001180465.1:p.Leu1660=
NM_203447.3:c.5184G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh389439,349 - 439,349CLINVAR
GRCh379439,349 - 439,349CLINVAR
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 RCV000645183 CLINVAR
dbSNP (RS) rs371723484 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR