RGN regucalcin
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 4 |
not provided | 6 | 0 |
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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56 |
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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
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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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 | GNL |
SYNONYM | HEL-S-41 |
SYNONYM | RC |
SYNONYM | SMP30 |
MIM | 300212 OMIM |
HGNC | HGNC:9989 HGNC |
Ensembl | ENSG00000130988 Ensembl |
AllianceGenome | HGNC:9989 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000336169.3 | hg38 | chrX | 47,080,859 | 47,093,310 | 12,452 |
ENST00000457380.5 | hg38 | chrX | 47,078,355 | 47,093,314 | 14,960 |
ENST00000397180.6 | hg38 | chrX | 47,078,443 | 47,093,313 | 14,871 |
ENST00000352078.8 | hg38 | chrX | 47,078,380 | 47,093,313 | 14,934 |
ENST00000457380.5 | hg19 | chrX | 46,937,754 | 46,952,713 | 14,960 |
ENST00000352078.8 | hg19 | chrX | 46,937,779 | 46,952,712 | 14,934 |
ENST00000397180.6 | hg19 | chrX | 46,937,842 | 46,952,712 | 14,871 |
ENST00000336169.3 | hg19 | chrX | 46,940,258 | 46,952,709 | 12,452 |
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