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

Variant : CV351557 (NM_000631.5(NCF4):c.271+6C>T) Homo sapiens

Symbol: CV351557
Name: NM_000631.5(NCF4):c.271+6C>T
Condition: Chronic granulomatous disease [RCV000272800]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III [RCV000648870]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 02/12/2019
Review Status: 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.271+6C>T
NM_013416.3:c.271+6C>T
LRG_159:g.9091C>T
NG_023400.1:g.9091C>T
NC_000022.11:g.36865078C>T
NC_000022.10:g.37261120C>T
NM_000631.5:c.271+6C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,865,078 - 36,865,078CLINVAR
GRCh372237,261,120 - 37,261,120CLINVAR
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: 11626928
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.