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

Variant : CV257662 (NM_000631.5(NCF4):c.69G>A (p.Ser23=)) Homo sapiens

Symbol: CV257662
Name: NM_000631.5(NCF4):c.69G>A (p.Ser23=)
Condition: Chronic granulomatous disease [RCV000352859]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III [RCV000535000]|not specified [RCV000245236]
Clinical Significance: benign|likely benign
Last Evaluated: 08/07/2017
Review Status: criteria provided, single submitter
Related Genes: NCF4   NCF4-AS1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_159t1:c.69G>A
LRG_159:g.8094G>A
NG_023400.1:g.8094G>A
NC_000022.11:g.36864081G>A
NC_000022.10:g.37260123G>A
LRG_159p1:p.Ser23=
NP_038202.2:p.Ser23=
NM_013416.3:c.69G>A
NM_000631.5:c.69G>A
NP_000622.2:p.Ser23=
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,864,081 - 36,864,081CLINVAR
GRCh372237,260,123 - 37,260,123CLINVAR
Cytogenetic Map2222q12.3CLINVAR
Trait Synonyms: AllHighlyPenetrant; CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF4 DEFICIENCY



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11545512
Created: 2016-10-11
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.