View genomic variant #0000026336

Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.52954385G>C
Published as -
GERP -
Segregation -
DB-ID NDUFS4_000022
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

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
NDUFS4 00000213 NM_002495.2 0000026336 ./. - - c.355G>C p.(Asp119His) - - - -
NDUFS4 00000212 XM_005248525.1 0000026336 ./. - - c.350+12150G>C p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000714799; RCV000714800;
Chromosome 5:52954385..52954385
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 578436
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005|MONDO:MONDO:0100133, MedGen:C1838979, Orphanet:ORPHA2609
ClinVar preferred disease name Leigh syndrome|Mitochondrial complex I deficiency
HGVS variant names NC 000005.9:g.52954385G>C
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. NDUFS4:4724
Molecular consequence SO:0001583|missense variant, SO:0001619|non-coding transcript variant, SO:0001627|intron variant
Allele origin inherited
dbSNP ID 747359752
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