View genomic variant #0000001641
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Type |
ins |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.156105866_156105867insTGGA |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
LMNA_000023 |
MSCV |
MSCV_0001641 |
dbSNP ID |
rs397517888 |
Frequency |
- |
Sources |
; |
Reference |
18585512 |
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 | RCV000041307; RCV000492959; RCV000805993; | Chromosome | 1:156105865..156105866 | ClinVar Allele ID | 57194 | 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.156105867 156105870dup | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Variant clinical sources reported | ClinGen:CA261950 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 397517888 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000223064; | Chromosome | 1:156105865..156105865 | ClinVar Allele ID | 228276 | Disease database name and identifier | MONDO:MONDO:0021106, MedGen:C5392094, Orphanet:98301 | ClinVar preferred disease name | Laminopathy | HGVS variant names | NC 000001.10:g.156105865C>G | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA10576367 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 876657649 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000703949; | Chromosome | 1:156105866..156105866 | ClinVar Allele ID | 556614 | Disease database name and identifier | MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746 | ClinVar preferred disease name | Charcot-Marie-Tooth disease type 2 | HGVS variant names | NC 000001.10:g.156105866A>G | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 1270221130 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000057233; | Chromosome | 1:156105867..156105867 | ClinVar Allele ID | 77673 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000001.10:g.156105867T>A | ClinVar review status | no assertion provided | Clinical Significance | not provided | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA016617|UniProtKB:P02545#VAR 009986 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant | dbSNP ID | 59653062 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000057234; RCV001036248; | Chromosome | 1:156105868..156105868 | ClinVar Allele ID | 77674 | Disease database name and identifier | MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:CN517202 | ClinVar preferred disease name | Charcot-Marie-Tooth disease type 2|not provided | HGVS variant names | NC 000001.10:g.156105869del | 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:CA016624 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 267607575 | 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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