KLHL15 kelch like family member 15
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 6 |
Likely benign | 0 | 38 |
not provided | 6 | 0 |
Uncertain significance | 0 | 60 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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4 |
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100 |
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4 |
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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Category | : |
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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 | HEL-S-305 |
SYNONYM | XLID103 |
MIM | 300980 OMIM |
HGNC | HGNC:29347 HGNC |
Ensembl | ENSG00000174010 Ensembl |
AllianceGenome | HGNC:29347 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000328046.8 | hg38 | chrX | 23,983,720 | 24,027,186 | 43,467 |
ENST00000684871.1 | hg38 | chrX | 23,986,399 | 24,024,795 | 38,397 |
ENST00000689334.1 | hg38 | chrX | 23,983,719 | 24,025,685 | 41,967 |
ENST00000693269.1 | hg38 | chrX | 23,983,720 | 24,025,058 | 41,339 |
ENST00000692681.1 | hg38 | chrX | 23,983,732 | 24,025,279 | 41,548 |
ENST00000685367.1 | hg38 | chrX | 23,983,716 | 24,025,317 | 41,602 |
ENST00000685367.1 | hg19 | chrX | 24,001,833 | 24,043,434 | 41,602 |
ENST00000689334.1 | hg19 | chrX | 24,001,836 | 24,043,802 | 41,967 |
ENST00000693269.1 | hg19 | chrX | 24,001,837 | 24,043,175 | 41,339 |
ENST00000328046.8 | hg19 | chrX | 24,001,837 | 24,045,303 | 43,467 |
ENST00000692681.1 | hg19 | chrX | 24,001,849 | 24,043,396 | 41,548 |
ENST00000684871.1 | hg19 | chrX | 24,004,516 | 24,042,912 | 38,397 |
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