View genomic variant #0000001624
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.156104629C>T |
Published as |
- |
GERP |
5.270 |
Segregation |
- |
DB-ID |
LMNA_000034 |
MSCV |
MSCV_0001624 |
dbSNP ID |
rs60682848 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
18035086;21315846;11561226;19638735;19882644;20301717 |
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 | RCV000057442; RCV000056001; RCV000194831; RCV000211792; RCV000464494; RCV001170453; RCV002362662; | Chromosome | 1:156104629..156104629 | ClinVar Allele ID | 57238 | Disease database name and identifier | MedGen:CN230736|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:C3661900|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0021569, MedGen:C0410190, OMIM:181350, Orphanet:261, Orphanet:264|MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751|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 | Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|not provided|Cardiomyopathy|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Dilated cardiomyopathy 1A|Primary dilated cardiomyopathy | HGVS variant names | NC 000001.10:g.156104629C>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:CA018429 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001587|nonsense | Allele origin | germline | dbSNP ID | 60682848 | 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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