View genomic variant #0000025995

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.37260986_37260995del
Published as -
GERP -
Segregation -
DB-ID NCF4_000022
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.
Legend  

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 0000025995 ./. c.143_152del p.(Lys48Thrfs*47) - - - - - r.(?) -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000208597;
Chromosome 22:37260985..37260986
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 224721
Disease database name and identifier MONDO:MONDO:0018305, MedGen:C0018203, OMIM:PS306400, Orphanet:ORPHA379
ClinVar preferred disease name Chronic granulomatous disease
HGVS variant names NC 000022.10:g.37260986 37260995dup
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type Duplication
Sequence Ontology for variant type SO:1000035
Gene symbol:Gene id. NCF4:4689|NCF4-AS1:107985578
Molecular consequence SO:0001589|frameshift variant
Allele origin germline
dbSNP ID 869025585
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000023112;
Chromosome 22:37260986..37260995
ClinVar Allele ID 39149
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.37260986 37260995del
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Variant clinical sources reported OMIM Allelic Variant:601488.0001
Gene symbol:Gene id. NCF4:4689|NCF4-AS1:107985578
Molecular consequence SO:0001589|frameshift variant
Allele origin germline
dbSNP ID 876657377
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