View genomic variant #0000021312

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.52942201C>T
Published as -
GERP -
Segregation -
DB-ID NDUFS4_000002 See all 2 reported entries
MSCV MSCV_0001020
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 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 0000021312 ./. - - c.316C>T p.(Arg106*) - - - -
NDUFS4 00000212 XM_005248525.1 0000021312 ./. - - c.316C>T p.(Arg106*) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000578296; RCV000735424;
Chromosome 5:52942201..52942201
ClinVar Allele ID 21928
Disease database name and identifier MONDO:MONDO:0100133, MedGen:C1838979, Orphanet:ORPHA2609|MONDO:MONDO:0100224, MedGen:CN257533, OMIM:252010
ClinVar preferred disease name Mitochondrial complex I deficiency|Mitochondrial complex I deficiency, nuclear type 1
HGVS variant names NC 000005.9:g.52942201C>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:602694.0003
Gene symbol:Gene id. NDUFS4:4724
Molecular consequence SO:0001587|nonsense, SO:0001619|non-coding transcript variant
Allele origin
dbSNP ID 104893898
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