NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser)Rat Genome Database

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Variant : CV174691 (NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser)) Homo sapiens

Symbol: CV174691
Name: NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser)
RGD ID: 9687732
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000364547]|not specified [RCV000150508]
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:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): Q8NF50:p.Asn413Ser
NM_001190458.2:c.1034A>G
NM_001193536.1:c.1034A>G
NP_001177387.1:p.Asn345Ser
NP_001180465.1:p.Asn345Ser
NP_982272.2:p.Asn413Ser
LRG_196t1:c.1238A>G
NM_203447.4:c.1238A>G
LRG_196p1:p.Asn413Ser
NM_203447.3:c.1238A>G
LRG_196:g.124473A>G
NG_017007.1:g.124473A>G
NC_000009.12:g.334337A>G
NC_000009.11:g.334337A>G
NP_982272.2:p.Asn413Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh389334,337 - 334,337CLINVAR
GRCh379334,337 - 334,337CLINVAR
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 RCV000150508 CLINVAR
  RCV000364547 CLINVAR
dbSNP (RS) rs10970979 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR