View genomic variant #0000036538
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.29527086G>A |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
chr1_000270 |
MSCV |
- |
dbSNP ID |
- |
Frequency |
- |
Sources |
; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
Retrieve |
Owner |
Lishuang Shen |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000415607; RCV000755160; RCV001865308; RCV003448300; | Chromosome | 1:29527086..29527086 | Allele frequencies from ESP | 0.00023 | Allele frequencies from ExAC | 0.00008 | ClinVar Allele ID | 361787 | Disease database name and identifier | Human Phenotype Ontology:HP:0000648, Human Phenotype Ontology:HP:0007751, Human Phenotype Ontology:HP:0007855, MONDO:MONDO:0003608, MedGen:C0029124|MedGen:C0752202|MONDO:MONDO:0015003, MedGen:C4310634, OMIM:617282, Orphanet:508093|MedGen:C3661900|MedGen:CN375824, OMIM:620629 | ClinVar preferred disease name | Optic atrophy|Childhood Onset Dystonias|Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities|not provided|Optic atrophy 16 | HGVS variant names | NC 000001.10:g.29527086G>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA725666|OMIM:608205.0005 | Gene symbol:Gene id. | MECR:51102 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | | dbSNP ID | 145192716 | 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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