View genomic variant #0000001610
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.156100499A>C |
Published as |
- |
GERP |
5.590 |
Segregation |
- |
DB-ID |
LMNA_000047 |
MSCV |
MSCV_0001610 |
dbSNP ID |
rs58917027 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
20848652;10908904 |
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 | RCV000041350; RCV000057407; RCV001265661; RCV001852841; | Chromosome | 1:156100499..156100499 | ClinVar Allele ID | 57231 | Disease database name and identifier | MeSH:D030342, MedGen:C0950123|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 | Inborn genetic diseases|Charcot-Marie-Tooth disease type 2|not provided|Primary dilated cardiomyopathy | HGVS variant names | NC 000001.10:g.156100499A>C | 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:CA018114|UniProtKB:P02545#VAR 039762 | Gene symbol:Gene id. | LMNA:4000|LOC126805877:126805877 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 58917027 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000208276; RCV000536399; RCV000611547; RCV002327072; | Chromosome | 1:156100499..156100499 | ClinVar Allele ID | 224181 | Disease database name and identifier | MedGen:CN169374|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|MedGen:CN230736|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746 | ClinVar preferred disease name | not specified|Primary dilated cardiomyopathy|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2 | HGVS variant names | NC 000001.10:g.156100499A>G | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Likely pathogenic(2)|Uncertain significance(2) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA088193 | Gene symbol:Gene id. | LMNA:4000|LOC126805877:126805877 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 58917027 | 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
|