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Variant : CV338083 (NM_000631.5(NCF4):c.940C>A (p.Pro314Thr)) Homo sapiens

Symbol: CV338083
Name: NM_000631.5(NCF4):c.940C>A (p.Pro314Thr)
Condition: Chronic granulomatous disease [RCV000407396]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NCF4  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_159t1:c.*138C>A
NM_013416.3:c.*138C>A
LRG_159:g.21756C>A
NG_023400.1:g.21756C>A
NC_000022.11:g.36877743C>A
NC_000022.10:g.37273785C>A
NP_000622.2:p.Pro314Thr
NM_000631.5:c.940C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,877,743 - 36,877,743CLINVAR
GRCh372237,273,785 - 37,273,785CLINVAR
Cytogenetic Map2222q12.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11626143
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.