View genomic variant #0000001653
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.156107457C>G |
Published as |
- |
GERP |
4.630 |
Segregation |
- |
DB-ID |
LMNA_000004 |
MSCV |
MSCV_0001653 |
dbSNP ID |
rs56984562 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
21085127;18031519;14675861;15372542;19167105 |
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 | RCV000057341; RCV000823221; | Chromosome | 1:156107457..156107457 | ClinVar Allele ID | 77756 | Disease database name and identifier | MedGen:CN517202|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746 | ClinVar preferred disease name | not provided|Charcot-Marie-Tooth disease type 2 | HGVS variant names | NC 000001.10:g.156107457C>A | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA017601|UniProtKB:P02545#VAR 039788 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant, SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 56984562 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000022641; RCV000057342; | Chromosome | 1:156107457..156107457 | ClinVar Allele ID | 38730 | Disease database name and identifier | MedGen:CN517202|MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751 | ClinVar preferred disease name | not provided|Dilated cardiomyopathy 1A | HGVS variant names | NC 000001.10:g.156107457C>G | ClinVar review status | no assertion criteria provided | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA017607|OMIM:150330.0053 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant, SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 56984562 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000041325; RCV000057343; RCV000211786; RCV000242991; RCV000462793; | Chromosome | 1:156107457..156107457 | ClinVar Allele ID | 57210 | Disease database name and identifier | MedGen:CN230736|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|MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746 | ClinVar preferred disease name | Cardiovascular phenotype|not provided|Primary dilated cardiomyopathy|Dilated cardiomyopathy 1A|Charcot-Marie-Tooth disease type 2 | HGVS variant names | NC 000001.10:g.156107457C>T | 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:CA017615|UniProtKB:P02545#VAR 039786 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant, SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 56984562 | 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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