View genomic variant #0000001638
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.156105747G>C |
Published as |
- |
GERP |
5.670 |
Segregation |
- |
DB-ID |
LMNA_000020 |
MSCV |
MSCV_0001638 |
dbSNP ID |
rs59301204 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
17377071;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 | RCV000182367; RCV000593819; RCV000769727; RCV001071970; RCV001265547; RCV002381325; RCV003235003; RCV003335073; | Chromosome | 1:156105747..156105747 | Allele frequencies from ExAC | 0.00002 | ClinVar Allele ID | 57262 | Disease database name and identifier | Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751|.|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:0016333, MedGen:C0340427, OMIM:PS115200, Orphanet:217607|MedGen:CN230736 | ClinVar preferred disease name | Cardiomyopathy|Dilated cardiomyopathy 1A|LMNA-Related Disorders|Charcot-Marie-Tooth disease type 2|not provided|Primary dilated cardiomyopathy|Primary familial dilated cardiomyopathy|Cardiovascular phenotype | HGVS variant names | NC 000001.10:g.156105747G>A | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(10)|Likely pathogenic(1)|Uncertain significance(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA018936 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 59301204 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000057496; | Chromosome | 1:156105747..156105747 | ClinVar Allele ID | 77860 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000001.10:g.156105747G>C | ClinVar review status | no assertion provided | Clinical Significance | not provided | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA018942 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant | dbSNP ID | 59301204 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001775173; | Chromosome | 1:156105747..156105747 | ClinVar Allele ID | 1065711 | Disease database name and identifier | MONDO:MONDO:0007269, MedGen:C1449563, OMIM:115200, Orphanet:300751 | ClinVar preferred disease name | Dilated cardiomyopathy 1A | HGVS variant names | NC 000001.10:g.156105747G>T | ClinVar review status | no assertion criteria provided | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | LMNA:4000 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 59301204 | 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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