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Variant : CV352521 (NM_000631.5(NCF4):c.478G>A (p.Val160Met)) Homo sapiens

Symbol: CV352521
Name: NM_000631.5(NCF4):c.478G>A (p.Val160Met)
Condition: Chronic granulomatous disease [RCV000359338]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III [RCV001084350]|not provided [RCV000762071]|not specified [RCV000596467]
Clinical Significance: benign|likely benign|uncertain significance
Last Evaluated: 12/31/2019
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: NCF4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_013416.3:c.478G>A
LRG_159t1:c.478G>A
LRG_159:g.15672G>A
NG_023400.1:g.15672G>A
NC_000022.11:g.36871659G>A
NC_000022.10:g.37267701G>A
LRG_159p1:p.Val160Met
NP_038202.2:p.Val160Met
NM_000631.5:c.478G>A
NP_000622.2:p.Val160Met
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,871,659 - 36,871,659CLINVAR
GRCh372237,267,701 - 37,267,701CLINVAR
Cytogenetic Map2222q12.3CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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: 11630778
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.