View genomic variant #0000001601
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.156084760C>T |
Published as |
- |
GERP |
2.890 |
Segregation |
- |
DB-ID |
LMNA_000038 |
MSCV |
MSCV_0001601 |
dbSNP ID |
rs11549668 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
23757202 |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.00945 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000030151; RCV000041354; RCV000057414; RCV000204379; RCV000246550; RCV000265426; RCV000285289; RCV000290770; RCV000320485; RCV000350387; RCV000351657; RCV000355480; RCV000385116; RCV000768708; RCV001028068; RCV001093839; RCV001098001; RCV001173421; RCV002496461; | Chromosome | 1:156084760..156084760 | Allele frequencies from ESP | 0.00945 | Allele frequencies from ExAC | 0.02399 | Allele frequencies from TGP | 0.00679 | ClinVar Allele ID | 45141 | 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:CN239352|MedGen:CN239184|MedGen:CN230736|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:166|MONDO:MONDO:0016830, MedGen:C0410189, OMIM:PS310300, Orphanet:261|MedGen:CN169374|MedGen:C3661900|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848|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:0031213, MedGen:C0406585, OMIM:PS275210, Orphanet:1662 | ClinVar preferred disease name | 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|Limb-Girdle Muscular Dystrophy, Recessive|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Emery-Dreifuss muscular dystrophy|not specified|not provided|Cardiomyopathy|Primary dilated cardiomyopathy|Lethal tight skin contracture syndrome | HGVS variant names | NC 000001.10:g.156084760C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA018206 | Gene symbol:Gene id. | LMNA:4000|LOC129931597:129931597 | Molecular consequence | SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 11549668 | 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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