View genomic variant #0000001696
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.201333494G>A |
Published as |
- |
GERP |
3.240 |
Segregation |
- |
DB-ID |
TNNT2_000003 |
MSCV |
MSCV_0001696 |
dbSNP ID |
rs74315380 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
15923195;22675533;14654368;15769782;21551322;12923187;15623536;17932326;23539503;15542288;{PMID |
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 | RCV000013226; RCV000030567; RCV000159291; RCV000524541; RCV000588329; RCV003450631; RCV003450630; | Chromosome | 1:201333494..201333494 | Allele frequencies from ExAC | 0.00001 | ClinVar Allele ID | 27454 | Disease database name and identifier | MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0007266, MedGen:C1861864, OMIM:115195|MONDO:MONDO:0012900, MedGen:C2676271, OMIM:612422, Orphanet:75249|MONDO:MONDO:0011095, MedGen:C1832243, OMIM:601494, Orphanet:154, Orphanet:54260|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 | Cardiovascular phenotype|not provided|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D|Primary dilated cardiomyopathy | HGVS variant names | NC 000001.10:g.201333494G>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA090410|OMIM:191045.0008 | Gene symbol:Gene id. | TNNT2:7139 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 74315380 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000441620; | Chromosome | 1:201333494..201333494 | ClinVar Allele ID | 364753 | Disease database name and identifier | MedGen:CN517202 | ClinVar preferred disease name | not provided | HGVS variant names | NC 000001.10:g.201333494G>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:CA16603524 | Gene symbol:Gene id. | TNNT2:7139 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 74315380 | 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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