NM_203447.4(DOCK8):c.4998G>C (p.Val1666=)Rat Genome Database

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Variant : CV497117 (NM_203447.4(DOCK8):c.4998G>C (p.Val1666=)) Homo sapiens

Symbol: CV497117
Name: NM_203447.4(DOCK8):c.4998G>C (p.Val1666=)
RGD ID: 13537460
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000917796]|not specified [RCV000610432]
Clinical Significance: likely benign
Last Evaluated: 12/31/2019
Review Status: 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): LRG_196:g.225030G>C
NG_017007.1:g.225030G>C
NC_000009.12:g.434894G>C
NC_000009.11:g.434894G>C
p.Val1666Val
NP_982272.2:p.Val1666=
NM_203447.3:c.4998G>C
NM_001190458.2:c.4698G>C
NM_001193536.1:c.4794G>C
NP_982272.2:p.Val1666=
LRG_196t1:c.4998G>C
NM_203447.4:c.4998G>C
LRG_196p1:p.Val1666=
NP_001177387.1:p.Val1566=
NP_001180465.1:p.Val1598=
Position
Human AssemblyChrPosition (strand)Source
GRCh389434,894 - 434,894CLINVAR
GRCh379434,894 - 434,894CLINVAR
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000610432 CLINVAR
  RCV000917796 CLINVAR
dbSNP (RS) rs370901183 CLINVAR
MedGen C4722305 CLINVAR
  CN169374 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR