LRRC32 leucine rich repeat containing 32
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 6 |
Likely benign | 0 | 24 |
Uncertain significance | 0 | 104 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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134 |
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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
[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 | CPPRDD |
SYNONYM | D11S833E |
SYNONYM | GARP |
MIM | 137207 OMIM |
HGNC | HGNC:4161 HGNC |
Ensembl | ENSG00000137507 Ensembl |
AllianceGenome | HGNC:4161 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000407242.6 | hg38 | chr11 | 76,657,525 | 76,670,000 | 12,476 |
ENST00000260061.9 | hg38 | chr11 | 76,657,524 | 76,670,747 | 13,224 |
ENST00000404995.5 | hg38 | chr11 | 76,657,527 | 76,670,747 | 13,221 |
ENST00000260061.9 | hg19 | chr11 | 76,368,568 | 76,381,791 | 13,224 |
ENST00000407242.6 | hg19 | chr11 | 76,368,569 | 76,381,044 | 12,476 |
ENST00000404995.5 | hg19 | chr11 | 76,368,571 | 76,381,791 | 13,221 |
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