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Variant : CV257664 (NM_000631.5(NCF4):c.628-14C>A) Homo sapiens

Symbol: CV257664
Name: NM_000631.5(NCF4):c.628-14C>A
Condition: Chronic granulomatous disease [RCV000264635]|not specified [RCV000253632]
Clinical Significance: benign|uncertain significance
Last Evaluated: 06/14/2016
Review Status: 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): LRG_159t1:c.628-14C>A
NM_013416.3:c.628-14C>A
LRG_159:g.19652C>A
NG_023400.1:g.19652C>A
NC_000022.11:g.36875639C>A
NC_000022.10:g.37271681C>A
NM_000631.5:c.628-14C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,875,639 - 36,875,639CLINVAR
GRCh372237,271,681 - 37,271,681CLINVAR
Cytogenetic Map2222q12.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11551883
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.