View genomic variant #0000021315

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.52978982del
Published as -
GERP -
Segregation -
DB-ID NDUFS4_000007
MSCV MSCV_0021315
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 8.0E-5 View details
Owner LOVD




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 0000021315 ./. - - c.459del p.(Lys154Asnfs*35) - - - -
NDUFS4 00000212 XM_005248525.1 0000021315 ./. - - c.*22del p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000133549; RCV000197700; RCV000586784;
Chromosome 5:52978982..52978982
ClinVar Allele ID 48741
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005|MONDO:MONDO:0100224, MedGen:CN257533, OMIM:252010|MedGen:CN517202
ClinVar preferred disease name Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not provided
HGVS variant names NC 000005.9:g.52978985del
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Variant clinical sources reported OMIM Allelic Variant:602694.0006
Gene symbol:Gene id. NDUFS4:4724
Molecular consequence SO:0001589|frameshift variant, SO:0001619|non-coding transcript variant, SO:0001624|3 prime UTR variant
Allele origin germline
dbSNP ID 587776949
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