NM_203447.3(DOCK8):c.1441G>A (p.Asp481Asn)Rat Genome Database

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Variant : CV312596 (NM_203447.3(DOCK8):c.1441G>A (p.Asp481Asn)) Homo sapiens

Symbol: CV312596
Name: NM_203447.3(DOCK8):c.1441G>A (p.Asp481Asn)
RGD ID: 11609574
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001057448]
Clinical Significance: uncertain significance
Last Evaluated: 01/28/2019
Review Status: criteria provided, multiple submitters, no conflicts|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): LRG_196t1:c.1441G>A
LRG_196:g.129160G>A
NG_017007.1:g.129160G>A
NC_000009.12:g.339024G>A
NC_000009.11:g.339024G>A
LRG_196p1:p.Asp481Asn
NP_982272.2:p.Asp481Asn
NM_203447.3:c.1441G>A
NM_001190458.2:c.1237G>A
NM_001193536.1:c.1237G>A
NP_001177387.1:p.Asp413Asn
NP_001180465.1:p.Asp413Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh389339,024 - 339,024CLINVAR
GRCh379339,024 - 339,024CLINVAR
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 RCV001057448 CLINVAR
dbSNP (RS) rs374938180 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR