NM_203447.4(DOCK8):c.5548C>T (p.Pro1850Ser)Rat Genome Database

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Variant : CV946654 (NM_203447.4(DOCK8):c.5548C>T (p.Pro1850Ser)) Homo sapiens

Symbol: CV946654
Name: NM_203447.4(DOCK8):c.5548C>T (p.Pro1850Ser)
RGD ID: 38495412
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001225700]
Clinical Significance: uncertain significance
Last Evaluated: 08/08/2019
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.5548C>T
NM_001190458.2:c.5248C>T
NM_001193536.1:c.5344C>T
NM_203447.4:c.5548C>T
LRG_196:g.233620C>T
NG_017007.1:g.233620C>T
NC_000009.12:g.443484C>T
NC_000009.11:g.443484C>T
NM_203447.3:c.5548C>T
NP_001177387.1:p.Pro1750Ser
NP_001180465.1:p.Pro1782Ser
NP_982272.2:p.Pro1850Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh389443,484 - 443,484CLINVAR
GRCh379443,484 - 443,484CLINVAR
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001225700 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR