View genomic variant #0000000891

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.13782298T>C
Published as -
GERP 5.470
Segregation -
DB-ID NDUFAF5_000002 See all 2 reported entries
MSCV MSCV_0000891
dbSNP ID rs118203929
Frequency -
Sources ; clinVar; Ensembl;
Reference 18940309
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.
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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 0000000891 +/+ - 6/10 c.602T>C r.? p.? probably_damaging(0.997) missense_variant - deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000000600; RCV001376922; RCV001831498;
Chromosome 20:13782298..13782298
Allele frequencies from ExAC 0.00004
Allele frequencies from TGP 0.00020
ClinVar Allele ID 15609
Disease database name and identifier MONDO:MONDO:0032621, MedGen:C4748785, OMIM:618238|MONDO:MONDO:0100133, MedGen:C1838979, Orphanet:ORPHA2609|MedGen:CN517202
ClinVar preferred disease name Mitochondrial complex 1 deficiency, nuclear type 16|Mitochondrial complex I deficiency|not provided
HGVS variant names NC 000020.10:g.13782298T>C
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported UniProtKB (protein):Q5TEU4#VAR 054119|OMIM Allelic Variant:612360.0001
Gene symbol:Gene id. NDUFAF5:79133
Molecular consequence SO:0001583|missense variant, SO:0001619|non-coding transcript variant
Allele origin germline
dbSNP ID 118203929
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