View genomic variant #0000001651
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.156106776G>T |
Published as |
- |
GERP |
5.400 |
Segregation |
- |
DB-ID |
LMNA_000002 |
MSCV |
MSCV_0001651 |
dbSNP ID |
rs11575937 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
10999845;11792809;16181372;16415042;19011997;11078466;10999791;10655060;10587585;10739751;{PMID |
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 | RCV000057299; RCV000041318; RCV000015575; RCV000190399; RCV000459624; RCV000754814; RCV000763258; RCV001179839; RCV001822996; RCV002390111; RCV003398518; | Chromosome | 1:156106776..156106776 | Allele frequencies from ExAC | 0.00001 | ClinVar Allele ID | 29525 | Disease database name and identifier | MONDO:MONDO:0021106, MedGen:C5392094, Orphanet:98301|MONDO:MONDO:0007906, MedGen:C1720860, OMIM:151660, Orphanet:2348|MONDO:MONDO:0008310, MedGen:C0033300, OMIM:176670, Orphanet:740|MONDO:MONDO:0012417, MedGen:C1857829, OMIM:610140, Orphanet:168796|MONDO:MONDO:0021569, MedGen:C0410190, OMIM:181350, Orphanet:261, Orphanet:264|MONDO:MONDO:0011569, MedGen:C1854154, OMIM:605588, Orphanet:98856|MONDO:MONDO:0008915, MedGen:C0796031, OMIM:212112, Orphanet:2229|MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751|MONDO:MONDO:0031213, MedGen:C0406585, OMIM:PS275210, Orphanet:1662|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:0015967, MedGen:C3888631, Orphanet:183625|MedGen:CN230736|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:C3661900|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848 | ClinVar preferred disease name | Laminopathy|Familial partial lipodystrophy, Dunnigan type|Hutchinson-Gilford syndrome|Heart-hand syndrome, Slovenian type|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Charcot-Marie-Tooth disease type 2B1|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome|Dilated cardiomyopathy 1A|Lethal tight skin contracture syndrome|Mandibuloacral dysplasia with type A lipodystrophy|Emery-Dreifuss muscular dystrophy 3, autosomal recessive|Congenital muscular dystrophy due to LMNA mutation|LMNA-related condition|Monogenic diabetes|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|not provided|Cardiomyopathy | HGVS variant names | NC 000001.10:g.156106776G>A | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(13)|Uncertain significance(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA014814|OMIM:150330.0010|UniProtKB:P02545#VAR 009992 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 11575937 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000015580; RCV000057300; RCV001098782; RCV001097055; RCV001097056; RCV001098784; RCV001098785; RCV001098786; RCV001098787; RCV001098783; RCV001098788; | Chromosome | 1:156106776..156106776 | ClinVar Allele ID | 29529 | Disease database name and identifier | MedGen:CN239184|MedGen:C3661900|MONDO:MONDO:0016830, MedGen:C0410189, OMIM:PS310300, Orphanet:261|MONDO:MONDO:0011569, MedGen:C1854154, OMIM:605588, Orphanet:98856|MONDO:MONDO:0008310, MedGen:C0033300, OMIM:176670, Orphanet:740|MONDO:MONDO:0013178, MedGen:C2750785, OMIM:613205, Orphanet:157973|MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751|MONDO:MONDO:0007906, MedGen:C1720860, OMIM:151660, Orphanet:2348|MONDO:MONDO:0009557, MedGen:C5399785, OMIM:248370, Orphanet:2457, Orphanet:90153|MONDO:MONDO:0021569, MedGen:C0410190, OMIM:181350, Orphanet:261, Orphanet:264|MONDO:MONDO:0031213, MedGen:C0406585, OMIM:PS275210, Orphanet:1662 | ClinVar preferred disease name | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|not provided|Emery-Dreifuss muscular dystrophy|Charcot-Marie-Tooth disease type 2B1|Hutchinson-Gilford syndrome|Congenital muscular dystrophy due to LMNA mutation|Dilated cardiomyopathy 1A|Familial partial lipodystrophy, Dunnigan type|Mandibuloacral dysplasia with type A lipodystrophy|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Lethal tight skin contracture syndrome | HGVS variant names | NC 000001.10:g.156106776G>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA017271|OMIM:150330.0012|UniProtKB:P02545#VAR 009991 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 11575937 | 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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