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Variant : CV224721 (NM_000631.5(NCF4):c.143_152dup (p.Lys52fs)) Homo sapiens

Symbol: CV224721
Name: NM_000631.5(NCF4):c.143_152dup (p.Lys52fs)
Condition: Chronic granulomatous disease [RCV000208597]
Clinical Significance: pathogenic
Last Evaluated: 02/11/2016
Review Status: no assertion criteria provided
Related Genes: NCF4   NCF4-AS1  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NP_038202.2:p.Lys52ArgfsTer79
LRG_159:g.8957_8966dup
NG_023400.1:g.8957_8966dup
LRG_159t1:c.143_152dup
NM_013416.3:c.143_152dup
NC_000022.11:g.36864944_36864953dup
NC_000022.10:g.37260986_37260995dup
LRG_159p1:p.Lys52fs
NP_000622.2:p.Lys52fs
NP_038202.2:p.Lys52fs
NM_000631.5:c.143_152dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,864,943 - 36,864,944CLINVAR
GRCh372237,260,985 - 37,260,986CLINVAR
Cytogenetic Map2222q12.3CLINVAR



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11050328
Created: 2016-04-12
Species: Homo sapiens
Last Modified: 2020-08-04
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.