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

Variant : CV352526 (NM_000631.5(NCF4):c.1011G>A (p.Thr337=)) Homo sapiens

Symbol: CV352526
Name: NM_000631.5(NCF4):c.1011G>A (p.Thr337=)
Condition: Chronic granulomatous disease [RCV000347518]
Clinical Significance: likely benign
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.*209G>A
NM_013416.3:c.*209G>A
LRG_159:g.21827G>A
NG_023400.1:g.21827G>A
NC_000022.11:g.36877814G>A
NC_000022.10:g.37273856G>A
NP_000622.2:p.Thr337=
NM_000631.5:c.1011G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,877,814 - 36,877,814CLINVAR
GRCh372237,273,856 - 37,273,856CLINVAR
Cytogenetic Map2222q12.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11630337
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



NHLBI Logo

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