NM_203447.4(DOCK8):c.5832G>A (p.Pro1944=)Rat Genome Database

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Variant : CV140856 (NM_203447.4(DOCK8):c.5832G>A (p.Pro1944=)) Homo sapiens

Symbol: CV140856
Name: NM_203447.4(DOCK8):c.5832G>A (p.Pro1944=)
RGD ID: 8690902
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000298530]|not specified [RCV000150517]
Clinical Significance: benign|likely 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.5832G>A
NM_001190458.2:c.5532G>A
NM_203447.4:c.5832G>A
NP_982272.2:p.Pro1944=
LRG_196t1:c.5832G>A
NM_001193536.1:c.5628G>A
NP_001180465.1:p.Pro1876=
LRG_196p1:p.Pro1944=
NP_001177387.1:p.Pro1844=
LRG_196:g.239934G>A
NG_017007.1:g.239934G>A
NC_000009.12:g.449798G>A
NC_000009.11:g.449798G>A
NP_982272.2:p.Pro1944=
p.Pro1944Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh389449,798 - 449,798CLINVAR
GRCh379449,798 - 449,798CLINVAR
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  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000150517 CLINVAR
  RCV000298530 CLINVAR
dbSNP (RS) rs10491684 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR