RTBDN retbindin
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 42 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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46 |
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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
[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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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 |
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MIM | 609553 OMIM |
HGNC | HGNC:30310 HGNC |
Ensembl | ENSG00000132026 Ensembl |
AllianceGenome | HGNC:30310 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000592204.5 | hg38 | chr19 | 12,825,478 | 12,834,576 | 9,099 |
ENST00000322912.9 | hg38 | chr19 | 12,825,482 | 12,835,416 | 9,935 |
ENST00000458671.6 | hg38 | chr19 | 12,825,483 | 12,830,416 | 4,934 |
ENST00000589272.5 | hg38 | chr19 | 12,825,479 | 12,835,428 | 9,950 |
ENST00000674343.2 | hg38 | chr19 | 12,825,482 | 12,834,579 | 9,098 |
ENST00000393233.6 | hg38 | chr19 | 12,825,478 | 12,830,675 | 5,198 |
ENST00000393233.6 | hg19 | chr19 | 12,936,292 | 12,941,489 | 5,198 |
ENST00000592204.5 | hg19 | chr19 | 12,936,292 | 12,945,390 | 9,099 |
ENST00000589272.5 | hg19 | chr19 | 12,936,293 | 12,946,242 | 9,950 |
ENST00000674343.2 | hg19 | chr19 | 12,936,296 | 12,945,393 | 9,098 |
ENST00000322912.9 | hg19 | chr19 | 12,936,296 | 12,946,230 | 9,935 |
ENST00000458671.6 | hg19 | chr19 | 12,936,297 | 12,941,230 | 4,934 |
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