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Variant : CV352520 (NM_000631.5(NCF4):c.180C>T (p.Arg60=)) Homo sapiens

Symbol: CV352520
Name: NM_000631.5(NCF4):c.180C>T (p.Arg60=)
Condition: Chronic granulomatous disease [RCV000391199]
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:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_159t1:c.180C>T
LRG_159:g.8994C>T
NG_023400.1:g.8994C>T
NC_000022.11:g.36864981C>T
NC_000022.10:g.37261023C>T
LRG_159p1:p.Arg60=
NP_038202.2:p.Arg60=
NM_013416.3:c.180C>T
NM_000631.5:c.180C>T
NP_000622.2:p.Arg60=
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,864,981 - 36,864,981CLINVAR
GRCh372237,261,023 - 37,261,023CLINVAR
Cytogenetic Map2222q12.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11631918
Created: 2017-01-11
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.