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

Variant : CV257667 (NM_000631.5(NCF4):c.897G>A (p.Ser299=)) Homo sapiens

Symbol: CV257667
Name: NM_000631.5(NCF4):c.897G>A (p.Ser299=)
Condition: Chronic granulomatous disease [RCV000385480]|not specified [RCV000253806]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: NCF4  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_159t1:c.*95G>A
LRG_159:g.21713G>A
NG_023400.1:g.21713G>A
NC_000022.11:g.36877700G>A
NC_000022.10:g.37273742G>A
NP_000622.2:p.Ser299=
p.Ser299Ser
NM_000631.4:c.897G>A
NM_000631.5:c.897G>A
LRG_159t1:c.*95G>A
NM_013416.3:c.*95G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,877,700 - 36,877,700CLINVAR
GRCh372237,273,742 - 37,273,742CLINVAR
Cytogenetic Map2222q12.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11552011
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



NHLBI Logo

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