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Variant : CV338070 (NM_000631.5(NCF4):c.240T>C (p.Ser80=)) Homo sapiens

Symbol: CV338070
Name: NM_000631.5(NCF4):c.240T>C (p.Ser80=)
Condition: Chronic granulomatous disease [RCV000308446]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III [RCV000648874]
Clinical Significance: benign|uncertain significance
Last Evaluated: 03/04/2019
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): NM_013416.3:c.240T>C
LRG_159t1:c.240T>C
LRG_159:g.9054T>C
NG_023400.1:g.9054T>C
NC_000022.11:g.36865041T>C
NC_000022.10:g.37261083T>C
LRG_159p1:p.Ser80=
NP_038202.2:p.Ser80=
NP_000622.2:p.Ser80=
NM_000631.5:c.240T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,865,041 - 36,865,041CLINVAR
GRCh372237,261,083 - 37,261,083CLINVAR
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: 11617843
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.