MPP4 MAGUK p55 scaffold protein 4
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 86 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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88 |
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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
[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 | ALS2CR5 |
SYNONYM | DLG6 |
MIM | 606575 OMIM |
HGNC | HGNC:13680 HGNC |
Ensembl | ENSG00000082126 Ensembl |
AllianceGenome | HGNC:13680 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000409143.5 | hg38 | chr2 | 201,645,105 | 201,698,068 | 52,964 |
ENST00000315506.11 | hg38 | chr2 | 201,644,870 | 201,698,694 | 53,825 |
ENST00000359962.9 | hg38 | chr2 | 201,644,875 | 201,698,694 | 53,820 |
ENST00000409474.8 | hg38 | chr2 | 201,644,874 | 201,698,644 | 53,771 |
ENST00000396886.7 | hg38 | chr2 | 201,644,875 | 201,698,057 | 53,183 |
ENST00000428900.6 | hg38 | chr2 | 201,644,897 | 201,697,996 | 53,100 |
ENST00000620095.4 | hg38 | chr2 | 201,644,875 | 201,698,694 | 53,820 |
ENST00000447335.6 | hg38 | chr2 | 201,645,156 | 201,694,057 | 48,902 |
ENST00000315506.11 | hg19 | chr2 | 202,509,593 | 202,563,417 | 53,825 |
ENST00000409474.8 | hg19 | chr2 | 202,509,597 | 202,563,367 | 53,771 |
ENST00000396886.7 | hg19 | chr2 | 202,509,598 | 202,562,780 | 53,183 |
ENST00000359962.9 | hg19 | chr2 | 202,509,598 | 202,563,417 | 53,820 |
ENST00000620095.4 | hg19 | chr2 | 202,509,598 | 202,563,417 | 53,820 |
ENST00000428900.6 | hg19 | chr2 | 202,509,620 | 202,562,719 | 53,100 |
ENST00000409143.5 | hg19 | chr2 | 202,509,828 | 202,562,791 | 52,964 |
ENST00000447335.6 | hg19 | chr2 | 202,509,879 | 202,558,780 | 48,902 |
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