View genomic variant #0000001695
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.201333493C>T |
Published as |
- |
GERP |
4.280 |
Segregation |
- |
DB-ID |
TNNT2_000002 |
MSCV |
MSCV_0001695 |
dbSNP ID |
rs397516464 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
15542288;15923195;18506004 |
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 | RCV000036586; RCV000534598; RCV003450699; RCV003450698; RCV003450700; | Chromosome | 1:201333493..201333493 | ClinVar Allele ID | 52807 | Disease database name and identifier | MONDO:MONDO:0011095, MedGen:C1832243, OMIM:601494, Orphanet:154, Orphanet:54260|MONDO:MONDO:0012900, MedGen:C2676271, OMIM:612422, Orphanet:75249|MONDO:MONDO:0007266, MedGen:C1861864, OMIM:115195|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 | Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Primary dilated cardiomyopathy | HGVS variant names | NC 000001.10:g.201333493C>G | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA004472 | Gene symbol:Gene id. | TNNT2:7139 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 397516464 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000036585; RCV000520859; RCV001042219; RCV003450695; RCV003450696; RCV003450697; | Chromosome | 1:201333493..201333493 | ClinVar Allele ID | 52806 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0011095, MedGen:C1832243, OMIM:601494, Orphanet:154, Orphanet:54260|MONDO:MONDO:0012900, MedGen:C2676271, OMIM:612422, Orphanet:75249|MONDO:MONDO:0007266, MedGen:C1861864, OMIM:115195|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 | not provided|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Primary dilated cardiomyopathy | HGVS variant names | NC 000001.10:g.201333493C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA004465 | Gene symbol:Gene id. | TNNT2:7139 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 397516464 | 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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