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
ClinVar @ MSeqDR | RCVaccession | RCV000998390; RCV002517242; | 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 | MeSH:D030342, MedGen:C0950123|MedGen:C3661900 | ClinVar preferred disease name | Inborn genetic diseases|not provided | HGVS variant names | NC 000005.9:g.52978992T>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | 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:506 | 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 | Variant clinical sources reported | ClinGen:CA658683384 | 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; RCV003469307; | Chromosome | 5:52978993..52978994 | ClinVar Allele ID | 916955 | Disease database name and identifier | MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506|MONDO:MONDO:0100224, MedGen:CN257533, OMIM:252010 | ClinVar preferred disease name | Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1 | HGVS variant names | NC 000005.9:g.52978995 52978999dup | ClinVar review status | criteria provided, multiple submitters, no conflicts | 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 | dbSNP ID | 1740730588 | 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
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