View genomic variant #0000001688
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.201331116C>A |
Published as |
- |
GERP |
4.440 |
Segregation |
- |
DB-ID |
TNNT2_000015 |
MSCV |
MSCV_0001688 |
dbSNP ID |
rs121964860 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
15542288;15923195;20031601 |
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 | RCV000013228; | Chromosome | 1:201331116..201331116 | ClinVar Allele ID | 27455 | Disease database name and identifier | MONDO:MONDO:0011095, MedGen:C1832243, OMIM:601494, Orphanet:154, Orphanet:54260 | ClinVar preferred disease name | Dilated cardiomyopathy 1D | HGVS variant names | NC 000001.10:g.201331116C>A | ClinVar review status | no assertion criteria provided | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA004873|OMIM:191045.0009 | Gene symbol:Gene id. | TNNT2:7139 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 121964860 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000220074; RCV000995904; | Chromosome | 1:201331116..201331116 | ClinVar Allele ID | 228281 | Disease database name and identifier | MONDO:MONDO:0011095, MedGen:C1832243, OMIM:601494, Orphanet:154, Orphanet:54260|MedGen:CN169374 | ClinVar preferred disease name | Dilated cardiomyopathy 1D|not specified | HGVS variant names | NC 000001.10:g.201331116C>G | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Likely pathogenic(1)|Uncertain significance(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA10576369 | Gene symbol:Gene id. | TNNT2:7139 | Molecular consequence | SO:0001583|missense variant | Allele origin | | dbSNP ID | 121964860 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000152098; RCV000464711; RCV000786227; | Chromosome | 1:201331116..201331116 | ClinVar Allele ID | 172498 | Disease database name and identifier | MedGen:CN517202|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 | ClinVar preferred disease name | not provided|not specified|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2 | HGVS variant names | NC 000001.10:g.201331116C>T | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(2)|Uncertain significance(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA004865 | Gene symbol:Gene id. | TNNT2:7139 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 121964860 | 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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