View genomic variant #0000001639
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.156105758C>T |
Published as |
- |
GERP |
5.870 |
Segregation |
- |
DB-ID |
LMNA_000021 |
MSCV |
MSCV_0001639 |
dbSNP ID |
rs386134243 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
22224630 |
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 | RCV000030145; RCV000182368; RCV000546102; RCV000620788; RCV000721960; RCV000845456; RCV000844672; RCV000852407; RCV001196390; RCV002477025; RCV003149579; RCV003407370; | Chromosome | 1:156105758..156105758 | ClinVar Allele ID | 45135 | Disease database name and identifier | .|MONDO:MONDO:0011569, MedGen:C1854154, OMIM:605588, Orphanet:98856|MONDO:MONDO:0007906, MedGen:C1720860, OMIM:151660, Orphanet:2348|MONDO:MONDO:0008915, MedGen:C0796031, OMIM:212112, Orphanet:2229|MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751|MONDO:MONDO:0021569, MedGen:C0410190, OMIM:181350, Orphanet:261, Orphanet:264|MONDO:MONDO:0012417, MedGen:C1857829, OMIM:610140, Orphanet:168796|MONDO:MONDO:0008310, MedGen:C0033300, OMIM:176670, Orphanet:740|MONDO:MONDO:0009557, MedGen:C5399785, OMIM:248370, Orphanet:2457, Orphanet:90153|MONDO:MONDO:0014676, MedGen:C2750035, OMIM:616516, Orphanet:261|MONDO:MONDO:0013178, MedGen:C2750785, OMIM:613205, Orphanet:157973|MONDO:MONDO:0030781, MedGen:C5676942, OMIM:619793|MedGen:CN230736|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:C3661900|Human Phenotype Ontology:HP:0030682, MONDO:MONDO:0018901, MedGen:C1960469, OMIM:PS604169, Orphanet:54260|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0016587, MedGen:C0349788, Orphanet:247|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:0021106, MedGen:C5392094, Orphanet:98301 | ClinVar preferred disease name | LMNA-related condition|Charcot-Marie-Tooth disease type 2B1|Familial partial lipodystrophy, Dunnigan type|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome|Dilated cardiomyopathy 1A|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Heart-hand syndrome, Slovenian type|Hutchinson-Gilford syndrome|Mandibuloacral dysplasia with type A lipodystrophy|Emery-Dreifuss muscular dystrophy 3, autosomal recessive|Congenital muscular dystrophy due to LMNA mutation|Restrictive dermopathy 2|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|not provided|Left ventricular noncompaction|Cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy|Primary dilated cardiomyopathy|Laminopathy | HGVS variant names | NC 000001.10:g.156105758C>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:CA016426|OMIM:150330.0058 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 386134243 | 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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