View genomic variant #0000003291
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.118880200T>G |
Published as |
- |
GERP |
5.570 |
Segregation |
- |
DB-ID |
CEP85L_000002 |
MSCV |
MSCV_0003291 |
dbSNP ID |
rs111033560 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
12639993;21167350;23861362;17655857 |
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 | RCV000014607; RCV000022712; RCV000151666; RCV000157419; RCV000157420; RCV000171826; RCV000523391; RCV000621703; RCV000770226; RCV002467493; RCV003389232; | Chromosome | 6:118880200..118880200 | Allele frequencies from ExAC | 0.00001 | ClinVar Allele ID | 28676 | Disease database name and identifier | MedGen:CN230736|MONDO:MONDO:0000591, MedGen:CN305117|Human Phenotype Ontology:HP:0001695, MONDO:MONDO:0000745, MedGen:C0018790|EFO:EFO 0004278, Human Phenotype Ontology:HP:0001645, Human Phenotype Ontology:HP:0005161, MeSH:D016757, MedGen:C0085298|MedGen:C3661900|MONDO:MONDO:0013475, MedGen:C3151265, OMIM:613874|MONDO:MONDO:0012362, MedGen:C1835928, OMIM:609909, Orphanet:154|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848|EFO:EFO 0000407, Human Phenotype Ontology:HP:0001644, Human Phenotype Ontology:HP:0001725, Human Phenotype Ontology:HP:0005159, Human Phenotype Ontology:HP:0200130, MONDO:MONDO:0005021, MeSH:D002311, MedGen:C0007193, Orphanet:217604|Human Phenotype Ontology:HP:0001639, MONDO:MONDO:0005045, MeSH:D002312, MedGen:C0007194, Orphanet:217569 | ClinVar preferred disease name | Cardiovascular phenotype|Intrinsic cardiomyopathy|Cardiac arrest|Sudden cardiac death|not provided|Hypertrophic cardiomyopathy 18|Dilated cardiomyopathy 1P|Cardiomyopathy|Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy | HGVS variant names | NC 000006.11:g.118880200T>G | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA249977|OMIM:172405.0002 | Gene symbol:Gene id. | PLN:5350|CEP85L:387119 | Molecular consequence | SO:0001587|nonsense, SO:0001627|intron variant | Allele origin | | dbSNP ID | 111033560 | 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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