View genomic variant #0000002874
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.220283222C>T |
Published as |
- |
GERP |
5.120 |
Segregation |
- |
DB-ID |
DES_000003 |
MSCV |
MSCV_0002874 |
dbSNP ID |
rs62636495 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
18061454;19763525;19879535;17720647 |
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 | RCV000651549; RCV000730717; | Chromosome | 2:220283222..220283222 | ClinVar Allele ID | 517846 | Disease database name and identifier | MONDO:MONDO:0011076, MedGen:C1832370, OMIM:601419, Orphanet:363543, Orphanet:98909|MedGen:CN517202 | ClinVar preferred disease name | Desmin-related myofibrillar myopathy|not provided | HGVS variant names | NC 000002.11:g.220283222C>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA350682283 | Gene symbol:Gene id. | DES:1674 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 62636495 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000037240; RCV000056801; RCV001389153; | Chromosome | 2:220283222..220283222 | ClinVar Allele ID | 53427 | Disease database name and identifier | MONDO:MONDO:0011076, MedGen:C1832370, OMIM:601419, Orphanet:363543, Orphanet:98909|MedGen:C3661900|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 | ClinVar preferred disease name | Desmin-related myofibrillar myopathy|not provided|Primary dilated cardiomyopathy | HGVS variant names | NC 000002.11:g.220283222C>T | 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:CA261520|OMIM:125660.0019|UniProtKB:P17661#VAR 067208 | Gene symbol:Gene id. | DES:1674 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 62636495 | 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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