NM_203447.4(DOCK8):c.2400C>A (p.Phe800Leu)Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV976658 (NM_203447.4(DOCK8):c.2400C>A (p.Phe800Leu)) Homo sapiens

Symbol: CV976658
Name: NM_203447.4(DOCK8):c.2400C>A (p.Phe800Leu)
RGD ID: 40904232
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001270395]
Clinical Significance: uncertain significance
Last Evaluated: 07/16/2020
Review Status: no assertion criteria provided
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.2400C>A
LRG_196:g.167307C>A
NC_000009.11:g.377171C>A
NC_000009.12:g.377171C>A
NP_001177387.1:p.Phe732Leu
NP_001180465.1:p.Phe732Leu
NM_001190458.2:c.2196C>A
NM_001193536.2:c.2196C>A
NP_982272.2:p.Phe800Leu
NM_203447.4:c.2400C>A
NM_203447.3:c.2400C>A
NG_017007.1:g.167307C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh389377,171 - 377,171CLINVAR
GRCh379377,171 - 377,171CLINVAR
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 Information

Database Acc Id Source(s)
ClinVar RCV001270395 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR