NM_203447.3(DOCK8):c.1824T>A (p.Pro608=)Rat Genome Database

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Variant : CV737136 (NM_203447.3(DOCK8):c.1824T>A (p.Pro608=)) Homo sapiens

Symbol: CV737136
Name: NM_203447.3(DOCK8):c.1824T>A (p.Pro608=)
RGD ID: 15167624
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000904690]
Clinical Significance: likely benign
Last Evaluated: 08/10/2018
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): NM_001190458.2:c.1620T>A
NM_001193536.1:c.1620T>A
NM_203447.3:c.1824T>A
NG_017007.1:g.160392T>A
NC_000009.12:g.370256T>A
NC_000009.11:g.370256T>A
NP_001177387.1:p.Pro540=
NP_001180465.1:p.Pro540=
NP_982272.2:p.Pro608=
LRG_196t1:c.1824T>A
LRG_196:g.160392T>A
LRG_196p1:p.Pro608=
Position
Human AssemblyChrPosition (strand)Source
GRCh389370,256 - 370,256CLINVAR
GRCh379370,256 - 370,256CLINVAR
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 RCV000904690 CLINVAR
dbSNP (RS) rs749361649 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR