View genomic variant #0000001699
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.201334784T>C |
Published as |
- |
GERP |
4.680 |
Segregation |
- |
DB-ID |
TNNT2_000006 |
MSCV |
MSCV_0001699 |
dbSNP ID |
rs397516450 |
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 | RCV000036562; RCV000553495; RCV001253102; RCV001179840; RCV002426557; | Chromosome | 1:201334784..201334784 | Allele frequencies from ExAC | 0.00002 | ClinVar Allele ID | 52787 | Disease database name and identifier | MedGen:CN230736|MedGen:CN169374|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|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848 | ClinVar preferred disease name | Cardiovascular phenotype|not specified|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Cardiomyopathy | HGVS variant names | NC 000001.10:g.201334784T>C | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Likely pathogenic(1)|Uncertain significance(5) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA088088 | Gene symbol:Gene id. | TNNT2:7139 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 397516450 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002807313; RCV003167799; RCV003455580; RCV003455581; RCV003455582; | Chromosome | 1:201334784..201334784 | ClinVar Allele ID | 2060253 | Disease database name and identifier | MedGen:CN230736|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 | ClinVar preferred disease name | Cardiovascular phenotype|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D | HGVS variant names | NC 000001.10:g.201334784T>G | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Uncertain significance | 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 | 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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