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Variant : CV39150 (NM_000631.5(NCF4):c.314G>A (p.Arg105Gln)) Homo sapiens

Symbol: CV39150
Name: NM_000631.5(NCF4):c.314G>A (p.Arg105Gln)
Condition: Chronic granulomatous disease [RCV000208606]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III [RCV000023113]
Clinical Significance: pathogenic
Last Evaluated: 02/11/2016
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: NCF4   NCF4-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only
HGVS Name(s): LRG_159t1:c.314G>A
NM_013416.3:c.314G>A
LRG_159:g.11447G>A
NG_023400.1:g.11447G>A
NC_000022.11:g.36867434G>A
NC_000022.10:g.37263476G>A
LRG_159p1:p.Arg105Gln
NP_038202.2:p.Arg105Gln
Q15080:p.Arg105Gln
NM_000631.5:c.314G>A
NP_000622.2:p.Arg105Gln
NP_038202.2:p.Arg105Gln
LRG_159t1:c.314G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,867,434 - 36,867,434CLINVAR
GRCh372237,263,476 - 37,263,476CLINVAR
Cytogenetic Map2222q12.3CLINVAR
Trait Synonyms: CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF4 DEFICIENCY
Age Of Onset: adolescent|childhood|infancy
Prevalence: 1-9 / 1 000 000



References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8568178
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.