View genomic variant #0000025996

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.37261022G>A
Published as -
GERP -
Segregation -
DB-ID NCF4_000023
MSCV -
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Lishuang Shen




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

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Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Splice distance     

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RNA change     

SIFT     
NCF4 00005014 NM_000631.4 0000025996 ./. c.179G>A p.(Arg60His) - - - - - r.(?) -
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ClinVar @ MSeqDR

RCVaccession RCV000648868; RCV000728333;
Chromosome 22:37261022..37261022
Allele frequencies from ESP 0.00008
Allele frequencies from ExAC 0.00003
ClinVar Allele ID 534315
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.37261022G>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. NCF4:4689|NCF4-AS1:107985578
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 369847561
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