View genomic variant #0000020356

Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.49059881_49059882insT
Published as -
GERP -
Segregation -
DB-ID NDUFAF3_000015
MSCV MSCV_0020356
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00016 View details
Owner LOVD




Variant on transcripts

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
NDUFAF3 00000951 NM_199069.1 0000020356 ./. - - c.180_181insT p.(Asp61*) - - - -
NDUFAF3 00000952 NM_199070.1 0000020356 ./. - - c.9_10insT p.(Asp4*) - - - -
NDUFAF3 00000950 NM_199073.1 0000020356 ./. - - c.9_10insT p.(Asp4*) - - - -
NDUFAF3 00000949 NM_199074.1 0000020356 ./. - - c.9_10insT p.(Asp4*) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000190607; RCV000599607;
Chromosome 3:49059881..49059882
Allele frequencies from ESP 0.00016
Allele frequencies from ExAC 0.00014
ClinVar Allele ID 205140
Disease database name and identifier MONDO:MONDO:0100133, MedGen:C1838979, Orphanet:2609|MedGen:C3661900
ClinVar preferred disease name Mitochondrial complex I deficiency|not provided
HGVS variant names NC 000003.11:g.49059881 49059882insT
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Likely pathogenic(1)|Uncertain significance(1)
Variant type Insertion
Sequence Ontology for variant type SO:0000667
Variant clinical sources reported ClinGen:CA204573
Gene symbol:Gene id. NDUFAF3:25915
Molecular consequence SO:0001587|nonsense
Allele origin germline
dbSNP ID 752864722
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