View genomic variant #0000025922

Chromosome 20
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.13765892G>A
Published as -
GERP -
Segregation -
DB-ID NDUFAF5_000005
MSCV -
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00023 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     

Location     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
NDUFAF5 00003328 NM_001039375.2 0000025922 ./. - - c.178G>A r.(?) p.(Ala60Thr) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000197548; RCV000765487; RCV001276988;
Chromosome 20:13765892..13765892
Allele frequencies from ESP 0.00023
Allele frequencies from ExAC 0.00016
ClinVar Allele ID 211925
Disease database name and identifier MONDO:MONDO:0100133, MedGen:C1838979, Orphanet:ORPHA2609|MONDO:MONDO:0100224, MedGen:CN257533, OMIM:252010|MedGen:CN517202
ClinVar preferred disease name Mitochondrial complex I deficiency|Mitochondrial complex I deficiency, nuclear type 1|not provided
HGVS variant names NC 000020.10:g.13765892G>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. NDUFAF5:79133
Molecular consequence SO:0001583|missense variant, SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant
Allele origin germline
dbSNP ID 146837138
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