View genomic variant #0000001348
Chromosome |
M |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
m.3697G>A |
Published as |
- |
GERP |
4.530 |
Segregation |
- |
DB-ID |
chrM_000100 See all 4 reported entries |
MSCV |
MSCV_0001348 |
dbSNP ID |
rs199476122 |
Frequency |
- |
Sources |
; clinVar; Mitomap; Ensembl; |
Reference |
17562939;15466014;20301353 |
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 | RCV000010385; RCV000010386; RCV000056168; RCV002221474; RCV003298030; | Chromosome | M:3697..3697 | ClinVar Allele ID | 24772 | Disease database name and identifier | MONDO:MONDO:0044970, MeSH:D028361, MedGen:C0751651, Orphanet:68380|Human Phenotype Ontology:HP:0001086, Human Phenotype Ontology:HP:0001112, MONDO:MONDO:0010788, MedGen:C0917796, OMIM:535000, Orphanet:104|MONDO:MONDO:0010772, MedGen:C1839040, OMIM:500001, Orphanet:99718|MONDO:MONDO:0010789, MedGen:C0162671, OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0002076, Human Phenotype Ontology:HP:0007194, MONDO:MONDO:0005277, MedGen:C0149931|Human Phenotype Ontology:HP:0002376, Human Phenotype Ontology:HP:0002471, Human Phenotype Ontology:HP:0002489, Human Phenotype Ontology:HP:0006797, Human Phenotype Ontology:HP:0006828, Human Phenotype Ontology:HP:0006854, Human Phenotype Ontology:HP:0007037, Human Phenotype Ontology:HP:0007242, Human Phenotype Ontology:HP:0007247, MedGen:C1836830|Human Phenotype Ontology:HP:0002119, Human Phenotype Ontology:HP:0002447, Human Phenotype Ontology:HP:0005691, Human Phenotype Ontology:HP:0007071, MedGen:C3278923|Human Phenotype Ontology:HP:0001576, Human Phenotype Ontology:HP:0001577, Human Phenotype Ontology:HP:0006973, Human Phenotype Ontology:HP:0007018, MONDO:MONDO:0007743, MedGen:C1263846|Human Phenotype Ontology:HP:0001332, Human Phenotype Ontology:HP:0002328, MONDO:MONDO:0003441, MedGen:C0013421|Human Phenotype Ontology:HP:0001276, Human Phenotype Ontology:HP:0002388, MedGen:C0026826|Human Phenotype Ontology:HP:0001250, Human Phenotype Ontology:HP:0001275, Human Phenotype Ontology:HP:0001303, Human Phenotype Ontology:HP:0002125, Human Phenotype Ontology:HP:0002182, Human Phenotype Ontology:HP:0002279, Human Phenotype Ontology:HP:0002306, Human Phenotype Ontology:HP:0002348, Human Phenotype Ontology:HP:0002391, Human Phenotype Ontology:HP:0002417, Human Phenotype Ontology:HP:0002430, Human Phenotype Ontology:HP:0002431, Human Phenotype Ontology:HP:0002432, Human Phenotype Ontology:HP:0002434, Human Phenotype Ontology:HP:0002437, Human Phenotype Ontology:HP:0002466, Human Phenotype Ontology:HP:0002479, Human Phenotype Ontology:HP:0002794, Human Phenotype Ontology:HP:0006997, Human Phenotype Ontology:HP:0010520, MedGen:C0036572 | ClinVar preferred disease name | Mitochondrial disease|Leber optic atrophy|Leber optic atrophy and dystonia|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke|Migraine|Developmental regression|Ventriculomegaly|Attention deficit hyperactivity disorder|Dystonic disorder|Hypertonia|Seizure | HGVS variant names | NC 012920.1:m.3697G>A | ClinVar review status | reviewed by expert panel | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA120647|Genetic Testing Registry (GTR):GTR000591967|Genetic Testing Registry (GTR):GTR000591975|Genetic Testing Registry (GTR):GTR000591976|OMIM:516000.0012 | Gene symbol:Gene id. | MT-ND1:4535 | Allele origin | | dbSNP ID | 199476122 | 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-ND1 | MELAS/LS/LDYT | G3697A | G-S | - | + | Cfrm | Coding_and_Control_Region |
Ensembl Variant Phenotype Information:
None
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