MEF2B myocyte enhancer factor 2B
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 2 |
not provided | 20 | 0 |
Uncertain significance | 0 | 68 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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68 |
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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
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 |
---|---|
SYNONYM | RSRFR2 |
MIM | 600661 OMIM |
HGNC | HGNC:6995 HGNC |
Ensembl | ENSG00000213999 Ensembl |
AllianceGenome | HGNC:6995 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000444486.7 | hg38 | chr19 | 19,145,567 | 19,192,131 | 46,565 |
ENST00000409224.5 | hg38 | chr19 | 19,145,568 | 19,170,263 | 24,696 |
ENST00000410050.5 | hg38 | chr19 | 19,145,569 | 19,170,248 | 24,680 |
ENST00000424583.7 | hg38 | chr19 | 19,145,567 | 19,170,263 | 24,697 |
ENST00000409447.2 | hg38 | chr19 | 19,145,593 | 19,170,289 | 24,697 |
ENST00000424583.7 | hg19 | chr19 | 19,256,376 | 19,281,072 | 24,697 |
ENST00000444486.7 | hg19 | chr19 | 19,256,376 | 19,302,940 | 46,565 |
ENST00000409224.5 | hg19 | chr19 | 19,256,377 | 19,281,072 | 24,696 |
ENST00000410050.5 | hg19 | chr19 | 19,256,378 | 19,281,057 | 24,680 |
ENST00000409447.2 | hg19 | chr19 | 19,256,402 | 19,281,098 | 24,697 |
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