View genomic variant #0000015599
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.161184059_161184060insTG |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
NDUFS2_000021 |
MSCV |
MSCV_0015599 |
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 | RCV000260184; RCV001712008; | Chromosome | 1:161184059..161184060 | ClinVar Allele ID | 277997 | Disease database name and identifier | MONDO:MONDO:0100133, MedGen:C1838979, Orphanet:2609|MedGen:CN517202 | ClinVar preferred disease name | Mitochondrial complex I deficiency|not provided | HGVS variant names | NC 000001.10:g.161184061GT[16] | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(1)|Benign(1) | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA10608556 | Gene symbol:Gene id. | NDUFS2:4720 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001624|3 prime UTR variant | Allele origin | germline | dbSNP ID | 10629771 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001662962; | Chromosome | 1:161184059..161184060 | ClinVar Allele ID | 1243345 | Disease database name and identifier | MedGen:C3661900 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000001.10:g.161184061GT[17] | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | NDUFS2:4720 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001624|3 prime UTR variant | Allele origin | germline | dbSNP ID | 10629771 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000317766; RCV001711871; | Chromosome | 1:161184059..161184060 | ClinVar Allele ID | 277891 | Disease database name and identifier | MONDO:MONDO:0100133, MedGen:C1838979, Orphanet:2609|MedGen:CN517202 | ClinVar preferred disease name | Mitochondrial complex I deficiency|not provided | HGVS variant names | NC 000001.10:g.161184061GT[18] | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(1)|Benign(1) | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA10608518 | Gene symbol:Gene id. | NDUFS2:4720 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001624|3 prime UTR variant | Allele origin | germline | dbSNP ID | 10629771 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001696297; | Chromosome | 1:161184059..161184060 | ClinVar Allele ID | 1272012 | Disease database name and identifier | MedGen:C3661900 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000001.10:g.161184061GT[19] | ClinVar review status | criteria provided, single submitter | Clinical Significance | Benign | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | NDUFS2:4720 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001624|3 prime UTR variant | Allele origin | germline | dbSNP ID | 10629771 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001589362; | Chromosome | 1:161184059..161184060 | ClinVar Allele ID | 1202119 | Disease database name and identifier | MedGen:C3661900 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000001.10:g.161184061GT[20] | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | NDUFS2:4720 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001624|3 prime UTR variant | Allele origin | germline | dbSNP ID | 10629771 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001583406; | Chromosome | 1:161184059..161184060 | ClinVar Allele ID | 1201594 | Disease database name and identifier | MedGen:C3661900 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000001.10:g.161184061GT[21] | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | NDUFS2:4720 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001624|3 prime UTR variant | Allele origin | germline | dbSNP ID | 10629771 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000378510; | Chromosome | 1:161184060..161184061 | ClinVar Allele ID | 277994 | Disease database name and identifier | MONDO:MONDO:0100133, MedGen:C1838979, Orphanet:2609 | ClinVar preferred disease name | Mitochondrial complex I deficiency | HGVS variant names | NC 000001.10:g.161184061GT[14] | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Variant clinical sources reported | ClinGen:CA10608554 | Gene symbol:Gene id. | NDUFS2:4720 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001624|3 prime UTR variant | Allele origin | germline | dbSNP ID | 10629771 | 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
|