TNNT3 troponin T3, fast skeletal type
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Likely pathogenic | 0 | 6 |
Benign | 6 | 122 |
Likely benign | 0 | 164 |
Conflicting classifications of pathogenicity | 0 | 32 |
not provided | 0 | 4 |
Uncertain significance | 0 | 166 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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62 |
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376 |
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0 |
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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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 | DA2B2 |
SYNONYM | TNTF |
SYNONYM | beta-TnTF |
MIM | 600692 OMIM |
HGNC | HGNC:11950 HGNC |
Ensembl | ENSG00000130595 Ensembl |
AllianceGenome | HGNC:11950 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000381589.7 | hg38 | chr11 | 1,919,706 | 1,938,706 | 19,001 |
ENST00000381579.7 | hg38 | chr11 | 1,919,706 | 1,938,706 | 19,001 |
ENST00000446240.1 | hg38 | chr11 | 1,922,875 | 1,938,492 | 15,618 |
ENST00000397304.6 | hg38 | chr11 | 1,922,875 | 1,938,492 | 15,618 |
ENST00000397301.5 | hg38 | chr11 | 1,922,867 | 1,938,492 | 15,626 |
ENST00000706488.1 | hg38 | chr11 | 1,922,853 | 1,938,699 | 15,847 |
ENST00000344578.8 | hg38 | chr11 | 1,919,725 | 1,938,492 | 18,768 |
ENST00000641225.1 | hg38 | chr11 | 1,922,779 | 1,938,567 | 15,789 |
ENST00000278317.11 | hg38 | chr11 | 1,919,703 | 1,938,702 | 19,000 |
ENST00000381563.8 | hg38 | chr11 | 1,919,723 | 1,938,492 | 18,770 |
ENST00000641787.1 | hg38 | chr11 | 1,922,779 | 1,938,567 | 15,789 |
ENST00000641119.1 | hg38 | chr11 | 1,922,779 | 1,938,566 | 15,788 |
ENST00000381558.6 | hg38 | chr11 | 1,919,748 | 1,938,706 | 18,959 |
ENST00000381557.6 | hg38 | chr11 | 1,919,706 | 1,938,701 | 18,996 |
ENST00000278317.11 | hg19 | chr11 | 1,940,933 | 1,959,932 | 19,000 |
ENST00000381557.6 | hg19 | chr11 | 1,940,936 | 1,959,931 | 18,996 |
ENST00000381579.7 | hg19 | chr11 | 1,940,936 | 1,959,936 | 19,001 |
ENST00000381589.7 | hg19 | chr11 | 1,940,936 | 1,959,936 | 19,001 |
ENST00000381563.8 | hg19 | chr11 | 1,940,953 | 1,959,722 | 18,770 |
ENST00000344578.8 | hg19 | chr11 | 1,940,955 | 1,959,722 | 18,768 |
ENST00000381558.6 | hg19 | chr11 | 1,940,978 | 1,959,936 | 18,959 |
ENST00000397301.5 | hg19 | chr11 | 1,944,097 | 1,959,722 | 15,626 |
ENST00000397304.6 | hg19 | chr11 | 1,944,105 | 1,959,722 | 15,618 |
ENST00000446240.1 | hg19 | chr11 | 1,944,105 | 1,959,722 | 15,618 |
ENST00000641119.1 | hg19 | chr11 | 1,944,009 | 1,959,796 | 15,788 |
ENST00000641787.1 | hg19 | chr11 | 1,944,009 | 1,959,797 | 15,789 |
ENST00000641225.1 | hg19 | chr11 | 1,944,009 | 1,959,797 | 15,789 |
ENST00000706488.1 | hg19 | chr11 | 1,944,083 | 1,959,929 | 15,847 |
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