View genomic variant #0000019381
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.207014658_207014659del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
NDUFS1_000040 |
MSCV |
MSCV_0019381 |
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 | RCV001566492; RCV002506670; | Chromosome | 2:207014657..207014658 | ClinVar Allele ID | 1189790 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0032610, MedGen:C4748754, OMIM:618226 | ClinVar preferred disease name | not provided|Mitochondrial complex 1 deficiency, nuclear type 5 | HGVS variant names | NC 000002.11:g.207014682dup | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | NDUFS1:4719 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 568965659 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000959835; | Chromosome | 2:207014657..207014658 | ClinVar Allele ID | 777232 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000002.11:g.207014677 207014682dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | NDUFS1:4719 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 568965659 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000953446; | Chromosome | 2:207014657..207014658 | ClinVar Allele ID | 777235 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000002.11:g.207014668 207014682dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | NDUFS1:4719 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 568965659 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000951062; | Chromosome | 2:207014657..207014658 | ClinVar Allele ID | 777174 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000002.11:g.207014666 207014682dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | NDUFS1:4719 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 568965659 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000949250; | Chromosome | 2:207014657..207014658 | ClinVar Allele ID | 777177 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000002.11:g.207014665 207014682dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | NDUFS1:4719 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 568965659 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000950385; | Chromosome | 2:207014657..207014658 | ClinVar Allele ID | 777231 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000002.11:g.207014664 207014682dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | NDUFS1:4719 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 568965659 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000676279; RCV001700445; RCV002493117; | Chromosome | 2:207014658..207014658 | ClinVar Allele ID | 549891 | Disease database name and identifier | MONDO:MONDO:0032610, MedGen:C4748754, OMIM:618226|MedGen:CN517202|MedGen:CN169374 | ClinVar preferred disease name | Mitochondrial complex 1 deficiency, nuclear type 5|not provided|not specified | HGVS variant names | NC 000002.11:g.207014682del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Likely benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | NDUFS1:4719 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 568965659 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000272442; RCV000329832; RCV000676276; | Chromosome | 2:207014658..207014659 | ClinVar Allele ID | 284922 | Disease database name and identifier | MONDO:MONDO:0100133, MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506|MedGen:CN517202 | ClinVar preferred disease name | Mitochondrial complex I deficiency|Leigh syndrome|not provided | HGVS variant names | NC 000002.11:g.207014681 207014682del | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(2)|Benign(1) | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA2070864 | Gene symbol:Gene id. | NDUFS1:4719 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 568965659 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000306609; RCV000676277; RCV000999960; | Chromosome | 2:207014658..207014660 | ClinVar Allele ID | 265866 | Disease database name and identifier | MedGen:CN517202|MONDO:MONDO:0032610, MedGen:C4748754, OMIM:618226|MedGen:CN169374 | ClinVar preferred disease name | not provided|Mitochondrial complex 1 deficiency, nuclear type 5|not specified | HGVS variant names | NC 000002.11:g.207014680 207014682del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA2070863 | Gene symbol:Gene id. | NDUFS1:4719 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 568965659 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000676278; | Chromosome | 2:207014658..207014661 | ClinVar Allele ID | 549890 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000002.11:g.207014679 207014682del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | NDUFS1:4719 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 568965659 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001699730; RCV002503153; | Chromosome | 2:207014658..207014662 | ClinVar Allele ID | 1274323 | Disease database name and identifier | MedGen:CN169374|MONDO:MONDO:0032610, MedGen:C4748754, OMIM:618226 | ClinVar preferred disease name | not specified|Mitochondrial complex 1 deficiency, nuclear type 5 | HGVS variant names | NC 000002.11:g.207014678 207014682del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | NDUFS1:4719 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 568965659 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000958897; | Chromosome | 2:207014658..207014663 | ClinVar Allele ID | 777223 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000002.11:g.207014677 207014682del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | NDUFS1:4719 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 568965659 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000946664; | Chromosome | 2:207014658..207014664 | ClinVar Allele ID | 777227 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000002.11:g.207014676 207014682del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | NDUFS1:4719 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 568965659 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002116759; | Chromosome | 2:207014658..207014669 | ClinVar Allele ID | 1541947 | Disease database name and identifier | MedGen:C3661900 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000002.11:g.207014671 207014682del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | NDUFS1:4719 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 568965659 | 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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