View genomic variant #0000001644
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.156105885G>A |
Published as |
- |
GERP |
5.300 |
Segregation |
- |
DB-ID |
LMNA_000026 |
MSCV |
MSCV_0001644 |
dbSNP ID |
rs61672878 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
12628721;12673789;10814726;12920062;17136397 |
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 | RCV000057235; RCV000547164; RCV000503996; RCV000681569; RCV001089610; RCV002321484; RCV003319170; | Chromosome | 1:156105885..156105885 | ClinVar Allele ID | 29534 | Disease database name and identifier | MedGen:CN230736|MedGen:C0520806|Human Phenotype Ontology:HP:0003544, Human Phenotype Ontology:HP:0003560, Human Phenotype Ontology:HP:0003806, MONDO:MONDO:0020121, MeSH:D009136, MedGen:C0026850, Orphanet:98473|MedGen:CN517202|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MONDO:MONDO:0021569, MedGen:C0410190, OMIM:181350, Orphanet:261, Orphanet:264|MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751 | ClinVar preferred disease name | Cardiovascular phenotype|Sudden unexplained death|Muscular dystrophy|not provided|Charcot-Marie-Tooth disease type 2|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Dilated cardiomyopathy 1A | HGVS variant names | NC 000001.10:g.156105885G>A | 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:CA016651|OMIM:150330.0017|UniProtKB:P02545#VAR 016205 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 61672878 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000057236; RCV000216517; RCV001237945; RCV002321554; RCV003448256; | Chromosome | 1:156105885..156105885 | ClinVar Allele ID | 77675 | Disease database name and identifier | MedGen:CN169374|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0013178, MedGen:C2750785, OMIM:613205, Orphanet:157973 | ClinVar preferred disease name | not specified|Charcot-Marie-Tooth disease type 2|not provided|Cardiovascular phenotype|Congenital muscular dystrophy due to LMNA mutation | HGVS variant names | NC 000001.10:g.156105885G>T | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(3)|Uncertain significance(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA016657|UniProtKB:P02545#VAR 039777 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 61672878 | 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
|