View genomic variant #0000001633
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
del |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.156105713del |
Published as |
- |
GERP |
5.670 |
Segregation |
- |
DB-ID |
LMNA_000015 |
MSCV |
MSCV_0001633 |
dbSNP ID |
rs56771886 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
10662742;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 | RCV000041381; RCV000236709; RCV001069384; | Chromosome | 1:156105713..156105713 | ClinVar Allele ID | 57259 | Disease database name and identifier | MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:CN517202|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 | Charcot-Marie-Tooth disease type 2|not provided|Primary dilated cardiomyopathy | HGVS variant names | NC 000001.10:g.156105713del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA018896 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 397517915 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000015581; RCV000057492; RCV000681609; | Chromosome | 1:156105714..156105714 | ClinVar Allele ID | 29530 | Disease database name and identifier | MONDO:MONDO:0021569, MedGen:C0410190, OMIM:181350, Orphanet:261, Orphanet:264|MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751|MedGen:C3661900 | ClinVar preferred disease name | Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Dilated cardiomyopathy 1A|not provided | HGVS variant names | NC 000001.10:g.156105715del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA018901|OMIM:150330.0013 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 56771886 | 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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