GPANK1 G-patch domain and ankyrin repeats 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| not provided | 4 | 0 |
| Uncertain significance | 0 | 52 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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54 |
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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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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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| 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 | ANKRD59 |
| SYNONYM | BAT4 |
| SYNONYM | D6S54E |
| SYNONYM | G5 |
| SYNONYM | GPATCH10 |
| MIM | 142610 OMIM |
| HGNC | HGNC:13920 HGNC |
| Ensembl | ENSG00000204438 Ensembl |
| AllianceGenome | HGNC:13920 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000375895.6 | hg38 | chr6 | 31,662,076 | 31,665,850 | 3,775 |
| ENST00000375896.9 | hg38 | chr6 | 31,661,228 | 31,664,997 | 3,770 |
| ENST00000375893.6 | hg38 | chr6 | 31,662,076 | 31,665,630 | 3,555 |
| ENST00000375906.5 | hg38 | chr6 | 31,661,229 | 31,666,283 | 5,055 |
| ENST00000375900.8 | hg38 | chr6 | 31,662,076 | 31,665,861 | 3,786 |
| ENST00000375896.9 | hg19 | chr6 | 31,629,005 | 31,632,774 | 3,770 |
| ENST00000375906.5 | hg19 | chr6 | 31,629,006 | 31,634,060 | 5,055 |
| ENST00000375893.6 | hg19 | chr6 | 31,629,853 | 31,633,407 | 3,555 |
| ENST00000375895.6 | hg19 | chr6 | 31,629,853 | 31,633,627 | 3,775 |
| ENST00000375900.8 | hg19 | chr6 | 31,629,853 | 31,633,638 | 3,786 |
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