View genomic variant #0000021314

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.52954468_52954469insT
Published as -
GERP -
Segregation -
DB-ID NDUFS4_000006
MSCV MSCV_0021314
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.16281 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 0000021314 ./. - - c.424+14_424+15insT p.(=) - - - -
NDUFS4 00000212 XM_005248525.1 0000021314 ./. - - c.350+12233_350+12234insT p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000310876; RCV000363200; RCV001515833;
Chromosome 5:52954468..52954469
ClinVar Allele ID 299993
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.52954473dup
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign/Likely benign
Variant type Duplication
Sequence Ontology for variant type SO:1000035
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:499050|Invitae:9184130
Gene symbol:Gene id. NDUFS4:4724
Molecular consequence SO:0001627|intron variant
Allele origin germline
dbSNP ID 140172554
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