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Variant : CV347719 (NM_000631.5(NCF4):c.442C>T (p.Arg148Cys)) Homo sapiens

Symbol: CV347719
Name: NM_000631.5(NCF4):c.442C>T (p.Arg148Cys)
Condition: Chronic granulomatous disease [RCV000309146]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NCF4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NP_000622.2:p.Arg148Cys
LRG_159t1:c.442C>T
LRG_159:g.14527C>T
NG_023400.1:g.14527C>T
NC_000022.11:g.36870514C>T
NC_000022.10:g.37266556C>T
LRG_159p1:p.Arg148Cys
NP_038202.2:p.Arg148Cys
NM_013416.3:c.442C>T
NM_000631.5:c.442C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,870,514 - 36,870,514CLINVAR
GRCh372237,266,556 - 37,266,556CLINVAR
Cytogenetic Map2222q12.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11628760
Created: 2017-01-11
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.