TENT5A terminal nucleotidyltransferase 5A
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 28 |
Likely benign | 0 | 106 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 106 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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10 |
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222 |
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10 |
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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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 | C6orf37 |
SYNONYM | FAM46A |
SYNONYM | OI18 |
SYNONYM | XTP11 |
MIM | 611357 OMIM |
HGNC | HGNC:18345 HGNC |
Ensembl | ENSG00000112773 Ensembl |
AllianceGenome | HGNC:18345 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000369756.3 | hg38 | chr6 | 81,745,730 | 81,752,774 | 7,045 |
ENST00000369754.7 | hg38 | chr6 | 81,745,730 | 81,752,708 | 6,979 |
ENST00000320172.11 | hg38 | chr6 | 81,745,730 | 81,752,681 | 6,952 |
ENST00000320172.11 | hg19 | chr6 | 82,455,447 | 82,462,398 | 6,952 |
ENST00000369754.7 | hg19 | chr6 | 82,455,447 | 82,462,425 | 6,979 |
ENST00000369756.3 | hg19 | chr6 | 82,455,447 | 82,462,491 | 7,045 |
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