View genomic variant #0000001626
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.156104705C>T |
Published as |
- |
GERP |
4.540 |
Segregation |
- |
DB-ID |
LMNA_000036 |
MSCV |
MSCV_0001626 |
dbSNP ID |
rs397517907 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
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 | RCV000041363; RCV000237089; RCV000707020; RCV001098298; RCV001100067; RCV001100069; RCV001100066; RCV001100068; RCV001100070; RCV001102065; RCV001100063; RCV001100064; RCV001100065; RCV001174245; RCV001186222; RCV002390179; RCV002490579; RCV003231111; | Chromosome | 1:156104705..156104705 | ClinVar Allele ID | 57242 | 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: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:0012417, MedGen:C1857829, OMIM:610140, Orphanet:168796|MONDO:MONDO:0021569, MedGen:C0410190, OMIM:181350, Orphanet:261, Orphanet:264|MONDO:MONDO:0008915, MedGen:C0796031, OMIM:212112, Orphanet:2229|MONDO:MONDO:0009557, MedGen:C5399785, OMIM:248370, Orphanet:2457, Orphanet:90153|MONDO:MONDO:0030781, MedGen:C5676942, OMIM:619793|MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:166|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:CN169374|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|MedGen:C3661900|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848|MedGen:CN239184|MedGen:CN230736|MONDO:MONDO:0016830, MedGen:C0410189, OMIM:PS310300, Orphanet:261 | ClinVar preferred disease name | Charcot-Marie-Tooth disease type 2B1|Familial partial lipodystrophy, Dunnigan type|Dilated cardiomyopathy 1A|Emery-Dreifuss muscular dystrophy 3, autosomal recessive|Congenital muscular dystrophy due to LMNA mutation|Hutchinson-Gilford syndrome|Heart-hand syndrome, Slovenian type|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome|Mandibuloacral dysplasia with type A lipodystrophy|Restrictive dermopathy 2|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2|not specified|Primary dilated cardiomyopathy|Lethal tight skin contracture syndrome|not provided|Cardiomyopathy|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|Cardiovascular phenotype|Emery-Dreifuss muscular dystrophy | HGVS variant names | NC 000001.10:g.156104705C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Uncertain significance/Uncertain risk allele | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA018573 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 397517907 | 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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