View genomic variant #0000022500
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.103220287del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
RRM2B_000062 |
MSCV |
MSCV_0022500 |
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 | RCV000281987; RCV000385688; RCV002480247; | Chromosome | 8:103220287..103220287 | ClinVar Allele ID | 307236 | Disease database name and identifier | MONDO:MONDO:0000090, MedGen:CN294859, OMIM:PS157640|MONDO:MONDO:0018158, MedGen:C0342782, OMIM:PS603041, Orphanet:35698|MONDO:MONDO:0012792, MedGen:C2749861, OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117, MedGen:C2751319, OMIM:613077|MONDO:MONDO:0010000, MedGen:C1849333, OMIM:268315 | ClinVar preferred disease name | Progressive external ophthalmoplegia with mitochondrial DNA deletions|Mitochondrial DNA depletion syndrome|Mitochondrial DNA depletion syndrome 8a|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5|Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | HGVS variant names | NC 000008.10:g.103220294del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Uncertain significance | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA10626675 | Gene symbol:Gene id. | RRM2B:50484 | Molecular consequence | SO:0001624|3 prime UTR variant | Allele origin | germline | dbSNP ID | 886062569 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000337064; RCV000373054; | Chromosome | 8:103220288..103220288 | ClinVar Allele ID | 307239 | Disease database name and identifier | MONDO:MONDO:0012792, MedGen:C2749861, OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117, MedGen:C2751319, OMIM:613077 | ClinVar preferred disease name | Mitochondrial DNA depletion syndrome 8a|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | HGVS variant names | NC 000008.10:g.103220288T>A | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA10626677 | Gene symbol:Gene id. | RRM2B:50484 | Molecular consequence | SO:0001624|3 prime UTR variant | Allele origin | germline | dbSNP ID | 886062570 | 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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