GPR50 G protein-coupled receptor 50
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 16 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 6 | 0 |
Uncertain significance | 0 | 72 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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94 |
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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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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 | H9 |
SYNONYM | Mel1c |
MIM | 300207 OMIM |
HGNC | HGNC:4506 HGNC |
Ensembl | ENSG00000102195 Ensembl |
AllianceGenome | HGNC:4506 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000218316.4 | hg38 | chrX | 151,176,584 | 151,181,465 | 4,882 |
ENST00000218316.4 | hg19 | chrX | 150,345,056 | 150,349,937 | 4,882 |
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