GYPC glycophorin C (Gerbich blood group)
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 20 |
Likely benign | 0 | 4 |
Affects | 0 | 6 |
Pathogenic; protective | 0 | 2 |
Uncertain significance | 0 | 48 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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10 |
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62 |
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8 |
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
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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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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 |
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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 | CD236 |
SYNONYM | CD236R |
SYNONYM | GE |
SYNONYM | GPC |
SYNONYM | GPD |
SYNONYM | GYPD |
SYNONYM | PAS-2 |
SYNONYM | PAS-2' |
MIM | 110750 OMIM |
HGNC | HGNC:4704 HGNC |
Ensembl | ENSG00000136732 Ensembl |
AllianceGenome | HGNC:4704 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000409836.3 | hg38 | chr2 | 126,656,184 | 126,696,664 | 40,481 |
ENST00000356887.12 | hg38 | chr2 | 126,656,189 | 126,696,667 | 40,479 |
ENST00000259254.9 | hg38 | chr2 | 126,656,158 | 126,696,667 | 40,510 |
ENST00000259254.9 | hg19 | chr2 | 127,413,734 | 127,454,243 | 40,510 |
ENST00000409836.3 | hg19 | chr2 | 127,413,760 | 127,454,240 | 40,481 |
ENST00000356887.12 | hg19 | chr2 | 127,413,765 | 127,454,243 | 40,479 |
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