View genomic variant #0000001635
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.156105716C>T |
Published as |
- |
GERP |
2.630 |
Segregation |
- |
DB-ID |
LMNA_000017 |
MSCV |
MSCV_0001635 |
dbSNP ID |
rs267607554 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
16715312;19875404 |
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 | RCV000041382; RCV000057493; RCV000686618; RCV000619789; RCV002265579; RCV002483029; | Chromosome | 1:156105716..156105716 | ClinVar Allele ID | 57260 | Disease database name and identifier | MONDO:MONDO:0016333, MedGen:C0340427, OMIM:PS115200, Orphanet:217607|MedGen:CN230736|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|MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751|MONDO:MONDO:0014676, MedGen:C2750035, OMIM:616516, Orphanet:261|MONDO:MONDO:0013178, MedGen:C2750785, OMIM:613205, Orphanet:157973|MONDO:MONDO:0008310, MedGen:C0033300, OMIM:176670, Orphanet:740|MONDO:MONDO:0008915, MedGen:C0796031, OMIM:212112, Orphanet:2229|MONDO:MONDO:0030781, MedGen:C5676942, OMIM:619793|MONDO:MONDO:0012417, MedGen:C1857829, OMIM:610140, Orphanet:168796|MONDO:MONDO:0021569, MedGen:C0410190, OMIM:181350, Orphanet:261, Orphanet:264|MONDO:MONDO:0009557, MedGen:C5399785, OMIM:248370, Orphanet:2457, Orphanet:90153|MONDO:MONDO:0011569, MedGen:C1854154, OMIM:605588, Orphanet:98856|MONDO:MONDO:0007906, MedGen:C1720860, OMIM:151660, Orphanet:2348 | ClinVar preferred disease name | Primary familial dilated cardiomyopathy|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|not provided|Primary dilated cardiomyopathy|Dilated cardiomyopathy 1A|Emery-Dreifuss muscular dystrophy 3, autosomal recessive|Congenital muscular dystrophy due to LMNA mutation|Hutchinson-Gilford syndrome|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome|Restrictive dermopathy 2|Heart-hand syndrome, Slovenian type|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Mandibuloacral dysplasia with type A lipodystrophy|Charcot-Marie-Tooth disease type 2B1|Familial partial lipodystrophy, Dunnigan type | HGVS variant names | NC 000001.10:g.156105716C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA018909 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001587|nonsense | Allele origin | germline | dbSNP ID | 267607554 | 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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