View genomic variant #0000001636
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.156105731T>A |
Published as |
- |
GERP |
3.340 |
Segregation |
- |
DB-ID |
LMNA_000018 |
MSCV |
MSCV_0001636 |
dbSNP ID |
rs56851164 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
16407522;16585054 |
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 | RCV000057494; RCV000208012; RCV000212504; RCV000544253; RCV000621488; RCV000755678; RCV001192112; | Chromosome | 1:156105731..156105731 | Allele frequencies from ExAC | 0.00006 | ClinVar Allele ID | 57261 | Disease database name and identifier | MedGen:CN230736|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:CN169374|MedGen:C3661900|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751|MONDO:MONDO:0024573, MeSH:D024741, MedGen:C0949658, OMIM:PS192600, Orphanet:155 | ClinVar preferred disease name | Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|not specified|not provided|Cardiomyopathy|Dilated cardiomyopathy 1A|Primary familial hypertrophic cardiomyopathy | HGVS variant names | NC 000001.10:g.156105731T>A | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Likely pathogenic(1)|Uncertain significance(8)|Likely benign(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA018917 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 56851164 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001324030; | Chromosome | 1:156105731..156105731 | ClinVar Allele ID | 1002176 | 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.156105731T>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 | 56851164 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000182391; RCV001382584; | Chromosome | 1:156105732..156105733 | ClinVar Allele ID | 196475 | 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.156105733 156105734del | 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:CA018921 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 794728610 | 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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