View genomic variant #0000026003

Chromosome 22
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.37266453A>G
Published as -
GERP -
Segregation -
DB-ID NCF4_000009
MSCV -
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00177 View details
Owner Lishuang Shen




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Splice distance     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
NCF4 00005014 NM_000631.4 0000026003 ./. c.343-4A>G p.? - - - - - r.spl? -
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ClinVar @ MSeqDR

RCVaccession RCV000546566; RCV001702803;
Chromosome 22:37266453..37266453
Allele frequencies from ESP 0.00177
Allele frequencies from ExAC 0.00252
Allele frequencies from TGP 0.00080
ClinVar Allele ID 470272
Disease database name and identifier MONDO:MONDO:0013507, MedGen:C3151409, OMIM:613960|MedGen:CN517202
ClinVar preferred disease name Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III|not provided
HGVS variant names NC 000022.10:g.37266453A>G
ClinVar review status criteria provided, single submitter
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. NCF4:4689|NCF4-AS1:107985578
Molecular consequence SO:0001619|non-coding transcript variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 79312013
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None