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

Variant : CV347715 (NM_000631.5(NCF4):c.33-6G>A) Homo sapiens

Symbol: CV347715
Name: NM_000631.5(NCF4):c.33-6G>A
Condition: Chronic granulomatous disease [RCV000391194]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III [RCV001078876]|not provided [RCV000591438]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 12/31/2019
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: NCF4   NCF4-AS1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_159t1:c.33-6G>A
NM_013416.3:c.33-6G>A
LRG_159:g.8052G>A
NG_023400.1:g.8052G>A
NC_000022.11:g.36864039G>A
NC_000022.10:g.37260081G>A
NM_000631.5:c.33-6G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,864,039 - 36,864,039CLINVAR
GRCh372237,260,081 - 37,260,081CLINVAR
Cytogenetic Map2222q12.3CLINVAR
Trait Synonyms: 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: 11631917
Created: 2017-01-11
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.