View genomic variant #0000001691
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.201333464G>A |
Published as |
- |
GERP |
3.340 |
Segregation |
- |
DB-ID |
TNNT2_000010 |
MSCV |
MSCV_0001691 |
dbSNP ID |
rs74315379 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
11684629;12923187;17932326;15623536;18349139;22675533;23539503;14654368;15769782 |
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 | RCV000013225; RCV000157537; RCV000159296; RCV000211866; RCV000524542; RCV000710045; RCV001375512; RCV003225021; RCV003450628; RCV003450629; | Chromosome | 1:201333464..201333464 | ClinVar Allele ID | 27453 | Disease database name and identifier | MONDO:MONDO:0015470, MedGen:C5679590, Orphanet:154|.|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|Human Phenotype Ontology:HP:0001639, MONDO:MONDO:0005045, MeSH:D002312, MedGen:C0007194, Orphanet:217569|MedGen:C3661900|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0007266, MedGen:C1861864, OMIM:115195|MONDO:MONDO:0011095, MedGen:C1832243, OMIM:601494, Orphanet:154, Orphanet:54260|MONDO:MONDO:0012900, MedGen:C2676271, OMIM:612422, Orphanet:75249 | ClinVar preferred disease name | Familial isolated dilated cardiomyopathy|TNNT2 -related cardiomyopathies|Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy|not provided|Cardiomyopathy|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3 | HGVS variant names | NC 000001.10:g.201333464G>A | 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:CA004526|OMIM:191045.0007|UniProtKB:P45379#VAR 016198 | Gene symbol:Gene id. | TNNT2:7139 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 74315379 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000036591; RCV000768723; RCV000874833; RCV001719732; RCV003298062; RCV003450705; RCV003450706; RCV003450707; | Chromosome | 1:201333464..201333464 | Allele frequencies from ExAC | 0.00017 | Allele frequencies from TGP | 0.00060 | ClinVar Allele ID | 52812 | Disease database name and identifier | MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848|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 | ClinVar preferred disease name | Cardiovascular phenotype|not specified|not provided|Cardiomyopathy|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2 | HGVS variant names | NC 000001.10:g.201333464G>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA088600 | Gene symbol:Gene id. | TNNT2:7139 | Molecular consequence | SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 74315379 | 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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