RTP2 receptor transporter protein 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 1 | 0 |
Likely benign | 0 | 8 |
Uncertain significance | 0 | 24 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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32 |
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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 | Z3CXXC2 |
MIM | 609138 OMIM |
HGNC | HGNC:32486 HGNC |
Ensembl | ENSG00000198471 Ensembl |
AllianceGenome | HGNC:32486 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000358241.1 | hg38 | chr3 | 187,698,259 | 187,702,557 | 4,299 |
ENST00000358241.1 | hg19 | chr3 | 187,416,047 | 187,420,345 | 4,299 |
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