NM_203447.3(DOCK8):c.1528C>A (p.Leu510Met)Rat Genome Database

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Variant : CV363998 (NM_203447.3(DOCK8):c.1528C>A (p.Leu510Met)) Homo sapiens

Symbol: CV363998
Name: NM_203447.3(DOCK8):c.1528C>A (p.Leu510Met)
RGD ID: 12848794
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000699772]|not provided [RCV000418267]
Clinical Significance: uncertain significance
Last Evaluated: 02/18/2018
Review Status: 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.1528C>A
LRG_196:g.130306C>A
NG_017007.1:g.130306C>A
NC_000009.12:g.340170C>A
NC_000009.11:g.340170C>A
LRG_196p1:p.Leu510Met
NP_982272.2:p.Leu510Met
NM_001190458.2:c.1324C>A
NM_001193536.1:c.1324C>A
NP_001177387.1:p.Leu442Met
NP_001180465.1:p.Leu442Met
NM_203447.3:c.1528C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh389340,170 - 340,170CLINVAR
GRCh379340,170 - 340,170 (+)CLINVAR
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000418267 CLINVAR
  RCV000699772 CLINVAR
dbSNP (RS) rs771479299 CLINVAR
MedGen C4722305 CLINVAR
  CN517202 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR