MSRB3 methionine sulfoxide reductase B3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Likely pathogenic | 0 | 10 |
Benign | 0 | 28 |
Likely benign | 0 | 62 |
Conflicting classifications of pathogenicity | 0 | 16 |
Uncertain significance | 0 | 56 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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38 |
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110 |
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4 |
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 |
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 | |||
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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 |
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SYNONYM | DFNB74 |
MIM | 613719 OMIM |
HGNC | HGNC:27375 HGNC |
Ensembl | ENSG00000174099 Ensembl |
AllianceGenome | HGNC:27375 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000535664.5 | hg38 | chr12 | 65,278,742 | 65,463,389 | 184,648 |
ENST00000355192.8 | hg38 | chr12 | 65,278,643 | 65,466,907 | 188,265 |
ENST00000646299.1 | hg38 | chr12 | 65,279,092 | 65,466,858 | 187,767 |
ENST00000642404.1 | hg38 | chr12 | 65,279,485 | 65,466,868 | 187,384 |
ENST00000642411.1 | hg38 | chr12 | 65,278,926 | 65,463,376 | 184,451 |
ENST00000308259.10 | hg38 | chr12 | 65,278,683 | 65,466,907 | 188,225 |
ENST00000540804.5 | hg38 | chr12 | 65,278,732 | 65,454,261 | 175,530 |
ENST00000614640.4 | hg38 | chr12 | 65,278,987 | 65,466,898 | 187,912 |
ENST00000355192.8 | hg19 | chr12 | 65,672,423 | 65,860,687 | 188,265 |
ENST00000308259.10 | hg19 | chr12 | 65,672,463 | 65,860,687 | 188,225 |
ENST00000535664.5 | hg19 | chr12 | 65,672,522 | 65,857,169 | 184,648 |
ENST00000540804.5 | hg19 | chr12 | 65,672,512 | 65,848,041 | 175,530 |
ENST00000642411.1 | hg19 | chr12 | 65,672,706 | 65,857,156 | 184,451 |
ENST00000614640.4 | hg19 | chr12 | 65,672,767 | 65,860,678 | 187,912 |
ENST00000646299.1 | hg19 | chr12 | 65,672,872 | 65,860,638 | 187,767 |
ENST00000642404.1 | hg19 | chr12 | 65,673,265 | 65,860,648 | 187,384 |
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