View genomic variant #0000001698
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.201334738A>C |
Published as |
- |
GERP |
-3.620 |
Segregation |
- |
DB-ID |
TNNT2_000005 |
MSCV |
MSCV_0001698 |
dbSNP ID |
rs397516454 |
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 | RCV000036570; | Chromosome | 1:201334738..201334738 | ClinVar Allele ID | 52794 | Disease database name and identifier | 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 | ClinVar preferred disease name | Primary dilated cardiomyopathy | HGVS variant names | NC 000001.10:g.201334738A>C | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA004247 | Gene symbol:Gene id. | TNNT2:7139 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 397516454 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000825476; | Chromosome | 1:201334738..201334738 | ClinVar Allele ID | 654176 | Disease database name and identifier | 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 | ClinVar preferred disease name | Primary dilated cardiomyopathy | HGVS variant names | NC 000001.10:g.201334738A>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | TNNT2:7139 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 397516454 | 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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