TNNT1 troponin T1, slow skeletal type
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 38 |
Likely pathogenic | 0 | 24 |
Benign | 0 | 92 |
Likely benign | 0 | 294 |
Conflicting classifications of pathogenicity | 0 | 30 |
not provided | 0 | 2 |
Uncertain significance | 0 | 236 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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70 |
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584 |
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16 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 |
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Target data | : |
MGeND data only
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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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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 | ANM |
SYNONYM | NEM5 |
SYNONYM | STNT |
SYNONYM | TNT |
SYNONYM | TNTS |
MIM | 191041 OMIM |
HGNC | HGNC:11948 HGNC |
Ensembl | ENSG00000105048 Ensembl |
AllianceGenome | HGNC:11948 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000588426.5 | hg38 | chr19 | 55,132,794 | 55,149,206 | 16,413 |
ENST00000291901.12 | hg38 | chr19 | 55,132,794 | 55,149,206 | 16,413 |
ENST00000587465.6 | hg38 | chr19 | 55,132,835 | 55,146,949 | 14,115 |
ENST00000588981.6 | hg38 | chr19 | 55,132,698 | 55,149,206 | 16,509 |
ENST00000356783.9 | hg38 | chr19 | 55,132,794 | 55,149,206 | 16,413 |
ENST00000587758.5 | hg38 | chr19 | 55,132,794 | 55,149,193 | 16,400 |
ENST00000585321.6 | hg38 | chr19 | 55,132,865 | 55,146,942 | 14,078 |
ENST00000588981.6 | hg19 | chr19 | 55,644,066 | 55,660,574 | 16,509 |
ENST00000587758.5 | hg19 | chr19 | 55,644,162 | 55,660,561 | 16,400 |
ENST00000291901.12 | hg19 | chr19 | 55,644,162 | 55,660,574 | 16,413 |
ENST00000356783.9 | hg19 | chr19 | 55,644,162 | 55,660,574 | 16,413 |
ENST00000588426.5 | hg19 | chr19 | 55,644,162 | 55,660,574 | 16,413 |
ENST00000587465.6 | hg19 | chr19 | 55,644,203 | 55,658,317 | 14,115 |
ENST00000585321.6 | hg19 | chr19 | 55,644,233 | 55,658,310 | 14,078 |
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