View genomic variant #0000021313

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.52954367_52954370del
Published as -
GERP -
Segregation -
DB-ID NDUFS4_000013
MSCV MSCV_0021313
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00591 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 0000021313 ./. - - c.351-14_351-11del p.(=) - - - -
NDUFS4 00000212 XM_005248525.1 0000021313 ./. - - c.350+12132_350+12135del p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000359717; RCV000390165; RCV000509247; RCV001712152;
Chromosome 5:52954367..52954370
ClinVar Allele ID 297817
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005|MONDO:MONDO:0100133, MedGen:C1838979, Orphanet:ORPHA2609|MedGen:CN517202
ClinVar preferred disease name Leigh syndrome|Mitochondrial complex I deficiency|not provided
HGVS variant names NC 000005.9:g.52954370 52954373del
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Likely benign(1), Uncertain significance(2)
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:620431
Gene symbol:Gene id. NDUFS4:4724
Molecular consequence SO:0001627|intron variant
Allele origin
dbSNP ID 375549253
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