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Variant : CV347708 (NM_000631.5(NCF4):c.-114C>T) Homo sapiens

Symbol: CV347708
Name: NM_000631.5(NCF4):c.-114C>T
Condition: Chronic granulomatous disease [RCV000341361]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NCF4   NCF4-AS1  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_159t1:c.-114C>T
NM_013416.3:c.-114C>T
LRG_159:g.5071C>T
NG_023400.1:g.5071C>T
NC_000022.11:g.36861058C>T
NC_000022.10:g.37257100C>T
NM_000631.5:c.-114C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,861,058 - 36,861,058CLINVAR
GRCh372237,257,100 - 37,257,100CLINVAR
Cytogenetic Map2222q12.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11657448
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



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