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Variant : CV257666 (NM_000631.5(NCF4):c.758+57T>C) Homo sapiens

Symbol: CV257666
Name: NM_000631.5(NCF4):c.758+57T>C
Condition: Chronic granulomatous disease [RCV000375140]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III [RCV000990434]|not specified [RCV000253146]
Clinical Significance: benign
Last Evaluated: 05/28/2019
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: NCF4  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_013416.3:c.815T>C
LRG_159t1:c.815T>C
LRG_159:g.19853T>C
NG_023400.1:g.19853T>C
NC_000022.11:g.36875840T>C
NC_000022.10:g.37271882T>C
LRG_159p1:p.Leu272Pro
NP_038202.2:p.Leu272Pro
NM_000631.5:c.758+57T>C
NP_038202.2:p.Leu272Pro
NM_013416.3:c.815T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,875,840 - 36,875,840CLINVAR
GRCh372237,271,882 - 37,271,882CLINVAR
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: 11551516
Created: 2016-10-11
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.