STOML1 stomatin like 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 40 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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42 |
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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 |
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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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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 | SLP-1 |
SYNONYM | STORP |
SYNONYM | hUNC-24 |
MIM | 608326 OMIM |
HGNC | HGNC:14560 HGNC |
Ensembl | ENSG00000067221 Ensembl |
AllianceGenome | HGNC:14560 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000564777.5 | hg38 | chr15 | 73,983,206 | 73,992,297 | 9,092 |
ENST00000316911.10 | hg38 | chr15 | 73,983,218 | 73,992,348 | 9,131 |
ENST00000541638.6 | hg38 | chr15 | 73,978,926 | 73,992,295 | 13,370 |
ENST00000316900.9 | hg38 | chr15 | 73,983,218 | 73,992,348 | 9,131 |
ENST00000359750.8 | hg38 | chr15 | 73,983,937 | 73,992,223 | 8,287 |
ENST00000561656.5 | hg38 | chr15 | 73,983,237 | 73,994,622 | 11,386 |
ENST00000541638.6 | hg19 | chr15 | 74,271,267 | 74,284,636 | 13,370 |
ENST00000564777.5 | hg19 | chr15 | 74,275,547 | 74,284,638 | 9,092 |
ENST00000316911.10 | hg19 | chr15 | 74,275,559 | 74,284,689 | 9,131 |
ENST00000316900.9 | hg19 | chr15 | 74,275,559 | 74,284,689 | 9,131 |
ENST00000561656.5 | hg19 | chr15 | 74,275,578 | 74,286,963 | 11,386 |
ENST00000359750.8 | hg19 | chr15 | 74,276,278 | 74,284,564 | 8,287 |
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