TLCD3B TLC domain containing 3B
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Likely benign | 0 | 2 |
| not provided | 9 | 0 |
| Uncertain significance | 0 | 22 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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26 |
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2 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | CORD22 |
| SYNONYM | FAM57B |
| SYNONYM | FP1188 |
| MIM | 615175 OMIM |
| HGNC | HGNC:25295 HGNC |
| Ensembl | ENSG00000149926 Ensembl |
| AllianceGenome | HGNC:25295 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000380495.9 | hg38 | chr16 | 30,024,427 | 30,031,271 | 6,845 |
| ENST00000564806.1 | hg38 | chr16 | 30,024,452 | 30,029,536 | 5,085 |
| ENST00000279389.8 | hg38 | chr16 | 30,024,427 | 30,030,084 | 5,658 |
| ENST00000279389.8 | hg19 | chr16 | 30,035,748 | 30,041,405 | 5,658 |
| ENST00000380495.9 | hg19 | chr16 | 30,035,748 | 30,042,592 | 6,845 |
| ENST00000564806.1 | hg19 | chr16 | 30,035,773 | 30,040,857 | 5,085 |
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