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Variant : CV338078 (NM_000631.5(NCF4):c.655T>C (p.Phe219Leu)) Homo sapiens

Symbol: CV338078
Name: NM_000631.5(NCF4):c.655T>C (p.Phe219Leu)
Condition: Chronic granulomatous disease [RCV000360601]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III [RCV001071442]
Clinical Significance: uncertain significance
Last Evaluated: 04/11/2019
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): LRG_159t1:c.655T>C
LRG_159:g.19693T>C
NG_023400.1:g.19693T>C
NC_000022.11:g.36875680T>C
NC_000022.10:g.37271722T>C
LRG_159p1:p.Phe219Leu
NP_038202.2:p.Phe219Leu
NM_013416.3:c.655T>C
NM_000631.5:c.655T>C
NP_000622.2:p.Phe219Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,875,680 - 36,875,680CLINVAR
GRCh372237,271,722 - 37,271,722CLINVAR
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: 11622446
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.