NM_203447.4(DOCK8):c.2340G>C (p.Leu780=)Rat Genome Database

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Variant : CV140842 (NM_203447.4(DOCK8):c.2340G>C (p.Leu780=)) Homo sapiens

Symbol: CV140842
Name: NM_203447.4(DOCK8):c.2340G>C (p.Leu780=)
RGD ID: 8690888
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000296192]|not specified [RCV000150510]
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:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_203447.3:c.2340G>C
NM_001190458.2:c.2136G>C
NM_203447.4:c.2340G>C
NP_982272.2:p.Leu780=
LRG_196t1:c.2340G>C
NM_001193536.1:c.2136G>C
NP_001180465.1:p.Leu712=
LRG_196p1:p.Leu780=
LRG_196:g.167247G>C
NG_017007.1:g.167247G>C
NC_000009.12:g.377111G>C
NC_000009.11:g.377111G>C
NP_982272.2:p.Leu780=
p.Leu780Leu
NP_001177387.1:p.Leu712=
Position
Human AssemblyChrPosition (strand)Source
GRCh389377,111 - 377,111CLINVAR
GRCh379377,111 - 377,111CLINVAR
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 RCV000150510 CLINVAR
  RCV000296192 CLINVAR
dbSNP (RS) rs10814431 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR