View genomic variant #0000023344
Chromosome |
M |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
m.14596A>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
chrM_000037 See all 2 reported entries |
MSCV |
MSCV_0001500 |
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 | RCV000010329; RCV000055704; | Chromosome | M:14596..14596 | ClinVar Allele ID | 24729 | Disease database name and identifier | MONDO:MONDO:0010772, MedGen:C1839040, OMIM:500001, Orphanet:99718|Human Phenotype Ontology:HP:0001086, Human Phenotype Ontology:HP:0001112, MONDO:MONDO:0010788, MedGen:C0917796, OMIM:535000, Orphanet:104 | ClinVar preferred disease name | Leber optic atrophy and dystonia|Leber optic atrophy | HGVS variant names | NC 012920.1:m.14596A>T | ClinVar review status | no assertion criteria provided | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA120626|OMIM:516006.0003 | Gene symbol:Gene id. | MT-ND6:4541 | Allele origin | | dbSNP ID | 387906424 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
MSeqDR View Variant at Gbrowse Mitomap Mitochondrial Variant Phenotype Information:
Locus | Disease | Allele | Amino_Acid_Change | Homoplasmy | Heteroplasmy | STATUS | Note | MT-ND6 | LHON | A14596T | I-M | + | - | Reported | Coding_and_Control_Region |
Ensembl Variant Phenotype Information:
None
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