View genomic variant #0000000890

Chromosome 20
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.13775585A>C
Published as -
GERP 4.840
Segregation -
DB-ID NDUFAF5_000001 See all 2 reported entries
MSCV MSCV_0000890
dbSNP ID rs267606689
Frequency -
Sources ; clinVar; Ensembl;
Reference 18940309;19542079
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
Legend  

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 0000000890 +/+ - - c.395+1712A>C r.? p.? - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000000601;
Chromosome 20:13775585..13775585
ClinVar Allele ID 15610
Disease database name and identifier MONDO:MONDO:0032621, MedGen:C4748785, OMIM:618238
ClinVar preferred disease name Mitochondrial complex 1 deficiency, nuclear type 16
HGVS variant names NC 000020.10:g.13775585A>C
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported UniProtKB (protein):Q5TEU4#VAR 067956|OMIM Allelic Variant:612360.0002
Gene symbol:Gene id. NDUFAF5:79133
Molecular consequence SO:0001583|missense variant, SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 267606689
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