SUN2 Sad1 and UNC84 domain containing 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 82 |
Likely benign | 0 | 316 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 456 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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72 |
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780 |
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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 |
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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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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 | UNC84B |
SYNONYM | rab5IP |
MIM | 613569 OMIM |
HGNC | HGNC:14210 HGNC |
Ensembl | ENSG00000100242 Ensembl |
AllianceGenome | HGNC:14210 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000405510.5 | hg38 | chr22 | 38,734,725 | 38,755,528 | 20,804 |
ENST00000405018.5 | hg38 | chr22 | 38,734,736 | 38,755,999 | 21,264 |
ENST00000689035.1 | hg38 | chr22 | 38,734,734 | 38,755,998 | 21,265 |
ENST00000406622.5 | hg38 | chr22 | 38,735,909 | 38,794,143 | 58,235 |
ENST00000455125.2 | hg38 | chr22 | 38,737,330 | 38,754,697 | 17,368 |
ENST00000405510.5 | hg19 | chr22 | 39,130,730 | 39,151,533 | 20,804 |
ENST00000405018.5 | hg19 | chr22 | 39,130,741 | 39,152,004 | 21,264 |
ENST00000406622.5 | hg19 | chr22 | 39,131,914 | 39,190,148 | 58,235 |
ENST00000455125.2 | hg19 | chr22 | 39,133,335 | 39,150,702 | 17,368 |
ENST00000689035.1 | hg19 | chr22 | 39,130,739 | 39,152,003 | 21,265 |
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