ARL6 ADP ribosylation factor like GTPase 6
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 56 |
| Likely pathogenic | 0 | 24 |
| Benign | 0 | 28 |
| Likely benign | 0 | 198 |
| Conflicting classifications of pathogenicity | 0 | 16 |
| Uncertain significance | 0 | 154 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
58 |
 |
384 |
 |
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
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | BBS3 |
| SYNONYM | RP55 |
| MIM | 608845 OMIM |
| HGNC | HGNC:13210 HGNC |
| Ensembl | ENSG00000113966 Ensembl |
| AllianceGenome | HGNC:13210 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000631834.2 | hg38 | chr3 | 97,764,763 | 97,798,170 | 33,408 |
| ENST00000335979.6 | hg38 | chr3 | 97,764,521 | 97,798,535 | 34,015 |
| ENST00000462412.3 | hg38 | chr3 | 97,764,521 | 97,798,535 | 34,015 |
| ENST00000463745.6 | hg38 | chr3 | 97,764,758 | 97,801,229 | 36,472 |
| ENST00000335979.6 | hg19 | chr3 | 97,483,365 | 97,517,379 | 34,015 |
| ENST00000462412.3 | hg19 | chr3 | 97,483,365 | 97,517,379 | 34,015 |
| ENST00000463745.6 | hg19 | chr3 | 97,483,602 | 97,520,073 | 36,472 |
| ENST00000631834.2 | hg19 | chr3 | 97,483,607 | 97,517,014 | 33,408 |
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