View genomic variant #0000025923

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.13797166T>G
Published as -
GERP -
Segregation -
DB-ID NDUFAF5_000004
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.
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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 0000025923 ./. - - c.752T>G r.(?) p.(Met251Arg) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000210569; RCV000679869; RCV001275555; RCV001507280;
Chromosome 20:13797166..13797166
Allele frequencies from ExAC 0.00004
ClinVar Allele ID 226977
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005|MONDO:MONDO:0032621, MedGen:C4748785, OMIM:618238|MONDO:MONDO:0100133, MedGen:C1838979, Orphanet:ORPHA2609|MeSH:D030342, MedGen:C0950123
ClinVar preferred disease name Leigh syndrome|Mitochondrial complex 1 deficiency, nuclear type 16|Mitochondrial complex I deficiency|Inborn genetic diseases
HGVS variant names NC 000020.10:g.13797166T>G
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Pathogenic(1)| Likely pathogenic(1)| Uncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:612360.0004
Gene symbol:Gene id. NDUFAF5:79133
Molecular consequence SO:0001583|missense variant, SO:0001619|non-coding transcript variant
Allele origin germline
dbSNP ID 761389904
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