View genomic variant #0000021308

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.52942061A>G
Published as -
GERP -
Segregation -
DB-ID NDUFS4_000015
MSCV MSCV_0021308
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 0000021308 ./. - - c.178-2A>G p.? - - - -
NDUFS4 00000212 XM_005248525.1 0000021308 ./. - - c.178-2A>G p.? - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000578463;
Chromosome 5:52942061..52942061
ClinVar Allele ID 481427
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005
ClinVar preferred disease name Leigh syndrome
HGVS variant names NC 000005.9:g.52942061A>G
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. NDUFS4:4724
Molecular consequence SO:0001574|splice acceptor variant
Allele origin inherited
dbSNP ID 1554059248
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