View genomic variant #0000026009

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.37266577C>G
Published as -
GERP -
Segregation -
DB-ID NCF4_000015
MSCV -
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
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 0000026009 ./. c.463C>G p.(Arg155Gly) - - - - - r.(?) -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000648863;
Chromosome 22:37266577..37266577
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 534784
Disease database name and identifier MONDO:MONDO:0013507, MedGen:C3151409, OMIM:613960
ClinVar preferred disease name Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
HGVS variant names NC 000022.10:g.37266577C>A
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. NCF4:4689
Molecular consequence SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 758154907
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000696380;
Chromosome 22:37266577..37266577
ClinVar Allele ID 571989
Disease database name and identifier MONDO:MONDO:0013507, MedGen:C3151409, OMIM:613960
ClinVar preferred disease name Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
HGVS variant names NC 000022.10:g.37266577C>G
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. NCF4:4689
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 758154907
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