View genomic variant #0000001685
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.201328764C>T |
Published as |
- |
GERP |
4.070 |
Segregation |
- |
DB-ID |
TNNT2_000012 |
MSCV |
MSCV_0001685 |
dbSNP ID |
rs121964861 |
Frequency |
- |
Sources |
; clinvar; |
Reference |
15542288 |
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 | RCV000547266; | Chromosome | 1:201328764..201328764 | Allele frequencies from ExAC | 0.00002 | ClinVar Allele ID | 447542 | Disease database name and identifier | 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 | Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3 | HGVS variant names | NC 000001.10:g.201328764C>A | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA089206 | Gene symbol:Gene id. | TNNT2:7139 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 121964861 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000013229; RCV001851816; RCV002415410; RCV003450633; RCV003450632; | Chromosome | 1:201328764..201328764 | ClinVar Allele ID | 27456 | 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.201328764C>T | 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 | Variant clinical sources reported | ClinGen:CA005187|OMIM:191045.0010 | Gene symbol:Gene id. | TNNT2:7139 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 121964861 | 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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