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Variant : CV347716 (NM_000631.5(NCF4):c.63C>T (p.Ala21=)) Homo sapiens

Symbol: CV347716
Name: NM_000631.5(NCF4):c.63C>T (p.Ala21=)
Condition: Chronic granulomatous disease [RCV000311789]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III [RCV000558824]
Clinical Significance: benign|likely benign
Last Evaluated: 03/06/2019
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.63C>T
LRG_159:g.8088C>T
NG_023400.1:g.8088C>T
NC_000022.11:g.36864075C>T
NC_000022.10:g.37260117C>T
LRG_159p1:p.Ala21=
NP_038202.2:p.Ala21=
NM_013416.3:c.63C>T
NM_000631.5:c.63C>T
NP_000622.2:p.Ala21=
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,864,075 - 36,864,075CLINVAR
GRCh372237,260,117 - 37,260,117CLINVAR
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: 11628950
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.