View genomic variant #0000001655
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.156107547C>A |
Published as |
- |
GERP |
5.600 |
Segregation |
- |
DB-ID |
LMNA_000006 |
MSCV |
MSCV_0001655 |
dbSNP ID |
rs80338938 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
10580070;20301717 |
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 | RCV000015574; RCV000057044; RCV000705473; RCV001189216; | Chromosome | 1:156107547..156107547 | ClinVar Allele ID | 29524 | Disease database name and identifier | MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:CN517202|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751 | ClinVar preferred disease name | Charcot-Marie-Tooth disease type 2|not provided|Cardiomyopathy|Dilated cardiomyopathy 1A | HGVS variant names | NC 000001.10:g.156107547C>A | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(1)|Uncertain significance(3) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA017694|OMIM:150330.0009 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant, SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 80338938 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000057045; RCV000790249; RCV001176130; RCV001854169; RCV002504958; | Chromosome | 1:156107547..156107547 | ClinVar Allele ID | 77508 | Disease database name and identifier | MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:166|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:CN517202|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0008915, MedGen:C0796031, OMIM:212112, Orphanet:2229|MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751|MONDO:MONDO:0009557, MedGen:C5399785, OMIM:248370, Orphanet:2457, Orphanet:90153|MONDO:MONDO:0007906, MedGen:C1720860, OMIM:151660, Orphanet:2348|MONDO:MONDO:0011569, MedGen:C1854154, OMIM:605588, Orphanet:98856|MONDO:MONDO:0021569, MedGen:C0410190, OMIM:181350, Orphanet:261, Orphanet:264|MONDO:MONDO:0013178, MedGen:C2750785, OMIM:613205, Orphanet:157973|MONDO:MONDO:0014676, MedGen:C2750035, OMIM:616516, Orphanet:261|MONDO:MONDO:0030781, MedGen:C5676942, OMIM:619793|MONDO:MONDO:0012417, MedGen:C1857829, OMIM:610140, Orphanet:168796|MONDO:MONDO:0008310, MedGen:C0033300, OMIM:176670, Orphanet:740 | ClinVar preferred disease name | Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2|not provided|Cardiomyopathy|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome|Dilated cardiomyopathy 1A|Mandibuloacral dysplasia with type A lipodystrophy|Familial partial lipodystrophy, Dunnigan type|Charcot-Marie-Tooth disease type 2B1|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Congenital muscular dystrophy due to LMNA mutation|Emery-Dreifuss muscular dystrophy 3, autosomal recessive|Restrictive dermopathy 2|Heart-hand syndrome, Slovenian type|Hutchinson-Gilford syndrome | HGVS variant names | NC 000001.10:g.156107547C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA017701 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant, SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 80338938 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000249124; RCV000725840; RCV001191556; RCV001300467; RCV003333038; RCV003416104; | Chromosome | 1:156107547..156107548 | ClinVar Allele ID | 196485 | Disease database name and identifier | MedGen:CN230736|.|MedGen:C3661900|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0008915, MedGen:C0796031, OMIM:212112, Orphanet:2229|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746 | ClinVar preferred disease name | Cardiovascular phenotype|LMNA-related condition|not provided|Cardiomyopathy|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome|Charcot-Marie-Tooth disease type 2 | HGVS variant names | NC 000001.10:g.156107547 156107548delinsTC | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(1)|Uncertain significance(6) | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Variant clinical sources reported | ClinGen:CA017680 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant, SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 794728612 | 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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