ARHGAP6 Rho GTPase activating protein 6
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 26 |
Likely pathogenic | 0 | 6 |
Benign | 0 | 58 |
Likely benign | 0 | 68 |
Conflicting classifications of pathogenicity | 0 | 10 |
not provided | 7 | 8 |
Uncertain significance | 0 | 104 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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16 |
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210 |
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26 |
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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Category | : |
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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 |
---|---|
SYNONYM | RHOGAP6 |
SYNONYM | RHOGAPX-1 |
MIM | 300118 OMIM |
HGNC | HGNC:676 HGNC |
Ensembl | ENSG00000047648 Ensembl |
AllianceGenome | HGNC:676 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000380718.1 | hg38 | chrX | 11,143,397 | 11,665,701 | 522,305 |
ENST00000380736.5 | hg38 | chrX | 11,137,543 | 11,427,773 | 290,231 |
ENST00000657361.1 | hg38 | chrX | 11,117,651 | 11,266,004 | 148,354 |
ENST00000303025.10 | hg38 | chrX | 11,137,544 | 11,265,975 | 128,432 |
ENST00000337414.9 | hg38 | chrX | 11,137,544 | 11,665,920 | 528,377 |
ENST00000657361.1 | hg19 | chrX | 11,135,771 | 11,284,124 | 148,354 |
ENST00000380736.5 | hg19 | chrX | 11,155,663 | 11,445,893 | 290,231 |
ENST00000303025.10 | hg19 | chrX | 11,155,664 | 11,284,095 | 128,432 |
ENST00000337414.9 | hg19 | chrX | 11,155,664 | 11,684,040 | 528,377 |
ENST00000380718.1 | hg19 | chrX | 11,161,517 | 11,683,821 | 522,305 |
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