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Variant : CV338069 (NM_000631.5(NCF4):c.-95C>T) Homo sapiens

Symbol: CV338069
Name: NM_000631.5(NCF4):c.-95C>T
Condition: Chronic granulomatous disease [RCV000372657]
Clinical Significance: likely benign
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.-95C>T
NM_013416.3:c.-95C>T
LRG_159:g.5090C>T
NG_023400.1:g.5090C>T
NC_000022.11:g.36861077C>T
NC_000022.10:g.37257119C>T
NM_000631.5:c.-95C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,861,077 - 36,861,077CLINVAR
GRCh372237,257,119 - 37,257,119CLINVAR
Cytogenetic Map2222q12.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11623436
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.