ADGRG2 adhesion G protein-coupled receptor G2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 18 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 10 |
Likely benign | 0 | 34 |
not provided | 7 | 0 |
Uncertain significance | 0 | 58 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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4 |
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112 |
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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
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 | CBAVDX |
SYNONYM | EDDM6 |
SYNONYM | GPR64 |
SYNONYM | HE6 |
SYNONYM | TM7LN2 |
MIM | 300572 OMIM |
HGNC | HGNC:4516 HGNC |
Ensembl | ENSG00000173698 Ensembl |
AllianceGenome | HGNC:4516 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000356606.8 | hg38 | chrX | 18,989,315 | 19,122,464 | 133,150 |
ENST00000360279.8 | hg38 | chrX | 18,989,314 | 19,122,559 | 133,246 |
ENST00000357544.7 | hg38 | chrX | 18,989,314 | 19,122,559 | 133,246 |
ENST00000354791.7 | hg38 | chrX | 18,989,309 | 19,122,637 | 133,329 |
ENST00000379869.8 | hg38 | chrX | 18,989,307 | 19,122,468 | 133,162 |
ENST00000340581.3 | hg38 | chrX | 18,990,010 | 19,082,743 | 92,734 |
ENST00000379873.6 | hg38 | chrX | 18,989,309 | 19,122,637 | 133,329 |
ENST00000379876.5 | hg38 | chrX | 18,989,309 | 19,122,637 | 133,329 |
ENST00000379878.7 | hg38 | chrX | 18,989,309 | 19,122,637 | 133,329 |
ENST00000357991.7 | hg38 | chrX | 18,989,314 | 19,122,461 | 133,148 |
ENST00000379869.8 | hg19 | chrX | 19,007,425 | 19,140,586 | 133,162 |
ENST00000379873.6 | hg19 | chrX | 19,007,427 | 19,140,755 | 133,329 |
ENST00000379876.5 | hg19 | chrX | 19,007,427 | 19,140,755 | 133,329 |
ENST00000379878.7 | hg19 | chrX | 19,007,427 | 19,140,755 | 133,329 |
ENST00000354791.7 | hg19 | chrX | 19,007,427 | 19,140,755 | 133,329 |
ENST00000357991.7 | hg19 | chrX | 19,007,432 | 19,140,579 | 133,148 |
ENST00000357544.7 | hg19 | chrX | 19,007,432 | 19,140,677 | 133,246 |
ENST00000360279.8 | hg19 | chrX | 19,007,432 | 19,140,677 | 133,246 |
ENST00000356606.8 | hg19 | chrX | 19,007,433 | 19,140,582 | 133,150 |
ENST00000340581.3 | hg19 | chrX | 19,008,128 | 19,100,861 | 92,734 |
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