TNNT2 troponin T2, cardiac type
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 16 | 66 |
Likely pathogenic | 7 | 104 |
Benign | 2 | 176 |
Likely benign | 0 | 588 |
Conflicting classifications of pathogenicity | 0 | 186 |
Uncertain significance | 2 | 832 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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522 |
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1,120 |
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40 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Category | : |
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | CMD1D |
SYNONYM | CMH2 |
SYNONYM | CMPD2 |
SYNONYM | LVNC6 |
SYNONYM | RCM3 |
SYNONYM | TnTC |
SYNONYM | cTnT |
MIM | 191045 OMIM |
HGNC | HGNC:11949 HGNC |
Ensembl | ENSG00000118194 Ensembl |
AllianceGenome | HGNC:11949 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000714317.1 | hg38 | chr1 | 201,359,050 | 201,377,684 | 18,635 |
ENST00000714316.2 | hg38 | chr1 | 201,359,023 | 201,377,680 | 18,658 |
ENST00000714313.1 | hg38 | chr1 | 201,359,014 | 201,377,680 | 18,667 |
ENST00000714314.1 | hg38 | chr1 | 201,359,014 | 201,377,680 | 18,667 |
ENST00000714312.1 | hg38 | chr1 | 201,359,014 | 201,373,254 | 14,241 |
ENST00000658476.1 | hg38 | chr1 | 201,359,017 | 201,373,268 | 14,252 |
ENST00000509001.5 | hg38 | chr1 | 201,359,034 | 201,377,762 | 18,729 |
ENST00000660295.1 | hg38 | chr1 | 201,359,008 | 201,377,764 | 18,757 |
ENST00000367320.6 | hg38 | chr1 | 201,359,024 | 201,377,661 | 18,638 |
ENST00000367322.6 | hg38 | chr1 | 201,359,014 | 201,377,684 | 18,671 |
ENST00000412633.3 | hg38 | chr1 | 201,359,018 | 201,377,666 | 18,649 |
ENST00000438742.6 | hg38 | chr1 | 201,359,070 | 201,377,680 | 18,611 |
ENST00000367318.10 | hg38 | chr1 | 201,359,014 | 201,377,680 | 18,667 |
ENST00000422165.6 | hg38 | chr1 | 201,359,014 | 201,377,680 | 18,667 |
ENST00000455702.7 | hg38 | chr1 | 201,359,008 | 201,377,652 | 18,645 |
ENST00000656932.1 | hg38 | chr1 | 201,359,014 | 201,377,680 | 18,667 |
ENST00000367320.6 | hg19 | chr1 | 201,328,152 | 201,346,789 | 18,638 |
ENST00000367322.6 | hg19 | chr1 | 201,328,142 | 201,346,812 | 18,671 |
ENST00000412633.3 | hg19 | chr1 | 201,328,146 | 201,346,794 | 18,649 |
ENST00000422165.6 | hg19 | chr1 | 201,328,142 | 201,346,808 | 18,667 |
ENST00000367318.10 | hg19 | chr1 | 201,328,142 | 201,346,808 | 18,667 |
ENST00000438742.6 | hg19 | chr1 | 201,328,198 | 201,346,808 | 18,611 |
ENST00000509001.5 | hg19 | chr1 | 201,328,162 | 201,346,890 | 18,729 |
ENST00000455702.7 | hg19 | chr1 | 201,328,136 | 201,346,780 | 18,645 |
ENST00000714316.2 | hg19 | chr1 | 201,328,151 | 201,346,808 | 18,658 |
ENST00000714317.1 | hg19 | chr1 | 201,328,178 | 201,346,812 | 18,635 |
ENST00000658476.1 | hg19 | chr1 | 201,328,145 | 201,342,396 | 14,252 |
ENST00000660295.1 | hg19 | chr1 | 201,328,136 | 201,346,892 | 18,757 |
ENST00000714314.1 | hg19 | chr1 | 201,328,142 | 201,346,808 | 18,667 |
ENST00000714313.1 | hg19 | chr1 | 201,328,142 | 201,346,808 | 18,667 |
ENST00000656932.1 | hg19 | chr1 | 201,328,142 | 201,346,808 | 18,667 |
ENST00000714312.1 | hg19 | chr1 | 201,328,142 | 201,342,382 | 14,241 |
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