View genomic variant #0000021316

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.52978993_52978994del
Published as -
GERP -
Segregation -
DB-ID NDUFS4_000008
MSCV MSCV_0021316
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 0000021316 ./. - - c.470_471del p.(Ser157*) - - - -
NDUFS4 00000212 XM_005248525.1 0000021316 ./. - - c.*33_*34del p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000998390;
Chromosome 5:52978992..52978992
Allele frequencies from ESP 0.00023
Allele frequencies from ExAC 0.00016
Allele frequencies from TGP 0.00020
ClinVar Allele ID 211164
Disease database name and identifier MedGen:CN517202
ClinVar preferred disease name not provided
HGVS variant names NC 000005.9:g.52978992T>A
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. NDUFS4:4724
Molecular consequence SO:0001583|missense variant, SO:0001619|non-coding transcript variant, SO:0001624|3 prime UTR variant
Allele origin germline
dbSNP ID 149482195
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000578386;
Chromosome 5:52978993..52978994
ClinVar Allele ID 481428
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.52978993 52978994del
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Gene symbol:Gene id. NDUFS4:4724
Molecular consequence SO:0001587|nonsense, SO:0001619|non-coding transcript variant, SO:0001624|3 prime UTR variant
Allele origin inherited
dbSNP ID 1554062427
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV001193078;
Chromosome 5:52978993..52978994
ClinVar Allele ID 916955
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.52978995 52978999dup
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type Duplication
Sequence Ontology for variant type SO:1000035
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
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