HOMER3 homer scaffold protein 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 50 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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58 |
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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
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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 |
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Target data | : |
MGeND data only
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Category | : |
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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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SYNONYM | HOMER-3 |
SYNONYM | VESL3 |
MIM | 604800 OMIM |
HGNC | HGNC:17514 HGNC |
Ensembl | ENSG00000051128 Ensembl |
AllianceGenome | HGNC:17514 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000594794.5 | hg38 | chr19 | 18,929,206 | 18,941,190 | 11,985 |
ENST00000542541.6 | hg38 | chr19 | 18,929,443 | 18,940,304 | 10,862 |
ENST00000539827.5 | hg38 | chr19 | 18,929,203 | 18,939,635 | 10,433 |
ENST00000392351.8 | hg38 | chr19 | 18,929,203 | 18,941,217 | 12,015 |
ENST00000433218.6 | hg38 | chr19 | 18,929,201 | 18,940,352 | 11,152 |
ENST00000221222.15 | hg38 | chr19 | 18,929,203 | 18,939,049 | 9,847 |
ENST00000594439.5 | hg38 | chr19 | 18,929,439 | 18,938,982 | 9,544 |
ENST00000433218.6 | hg19 | chr19 | 19,040,010 | 19,051,161 | 11,152 |
ENST00000221222.15 | hg19 | chr19 | 19,040,012 | 19,049,858 | 9,847 |
ENST00000539827.5 | hg19 | chr19 | 19,040,012 | 19,050,444 | 10,433 |
ENST00000392351.8 | hg19 | chr19 | 19,040,012 | 19,052,026 | 12,015 |
ENST00000594794.5 | hg19 | chr19 | 19,040,015 | 19,051,999 | 11,985 |
ENST00000594439.5 | hg19 | chr19 | 19,040,248 | 19,049,791 | 9,544 |
ENST00000542541.6 | hg19 | chr19 | 19,040,252 | 19,051,113 | 10,862 |
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