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Variant : CV352522 (NM_000631.5(NCF4):c.647C>T (p.Thr216Met)) Homo sapiens

Symbol: CV352522
Name: NM_000631.5(NCF4):c.647C>T (p.Thr216Met)
Condition: Chronic granulomatous disease [RCV000324545]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III [RCV000648869]
Clinical Significance: uncertain significance
Last Evaluated: 08/02/2018
Review Status: 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.647C>T
LRG_159t1:c.647C>T
LRG_159:g.19685C>T
NG_023400.1:g.19685C>T
NC_000022.11:g.36875672C>T
NC_000022.10:g.37271714C>T
LRG_159p1:p.Thr216Met
NP_038202.2:p.Thr216Met
NM_000631.5:c.647C>T
NP_000622.2:p.Thr216Met
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,875,672 - 36,875,672CLINVAR
GRCh372237,271,714 - 37,271,714CLINVAR
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: 11629486
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-07-28
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.