View genomic variant #0000001657
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.156108298C>T |
Published as |
- |
GERP |
5.500 |
Segregation |
- |
DB-ID |
LMNA_000008 |
MSCV |
MSCV_0001657 |
dbSNP ID |
rs60890628 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
16809772;18926329;12628721;16278265;17250669;17377071 |
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 | RCV000015612; RCV000015613; RCV000015614; RCV000041329; RCV000057351; RCV000617932; RCV000653881; RCV001188887; RCV001248900; RCV002221478; RCV002509159; | Chromosome | 1:156108298..156108298 | Allele frequencies from ExAC | 0.00011 | ClinVar Allele ID | 29556 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0007906, MedGen:C1720860, OMIM:151660, Orphanet:2348|MONDO:MONDO:0011569, MedGen:C1854154, OMIM:605588, Orphanet:98856|MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751|MONDO:MONDO:0020088, MedGen:C0271694, OMIM:PS151660, Orphanet:98306|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:CN169374|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0013178, MedGen:C2750785, OMIM:613205, Orphanet:157973|MedGen:CN043412 | ClinVar preferred disease name | not provided|Familial partial lipodystrophy, Dunnigan type|Charcot-Marie-Tooth disease type 2B1|Dilated cardiomyopathy 1A|Familial partial lipodystrophy|Charcot-Marie-Tooth disease type 2|not specified|Cardiomyopathy|Cardiovascular phenotype|Congenital muscular dystrophy due to LMNA mutation|Mandibuloacral dysplasia with type A lipodystrophy, atypical | HGVS variant names | NC 000001.10:g.156108298C>T | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Likely pathogenic(1)|Uncertain significance(10)|Benign(1)|Likely benign(2) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA020299|OMIM:150330.0041|UniProtKB:P02545#VAR 039789 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 60890628 | 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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