ANKLE1 ankyrin repeat and LEM domain containing 1
Information
- Symbol
- ANKLE1
- Type
- protein-coding
- Description
- ankyrin repeat and LEM domain containing 1
- Entrez Gene ID
- 126549
- Genome
- hg19
- Position
- chr19:17,392,710-17,398,455
- Genome
- hg38
- Position
- chr19:17,281,901-17,287,646
- MIM
- 619348 OMIM
- HGNC
- HGNC:26812 HGNC
- Ensembl
- ENSG00000160117 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 12 |
| Likely benign | 0 | 12 |
| Uncertain significance | 0 | 124 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
148 |
 |
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
[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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| Search word | : | |
| 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 | ANKRD41 |
| SYNONYM | LEM3 |
| SYNONYM | LEMD6 |
| MIM | 619348 OMIM |
| HGNC | HGNC:26812 HGNC |
| Ensembl | ENSG00000160117 Ensembl |
| AllianceGenome | HGNC:26812 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000594072.6 | hg38 | chr19 | 17,281,699 | 17,286,854 | 5,156 |
| ENST00000404085.7 | hg38 | chr19 | 17,281,901 | 17,287,646 | 5,746 |
| ENST00000394458.7 | hg38 | chr19 | 17,281,645 | 17,287,646 | 6,002 |
| ENST00000652132.1 | hg38 | chr19 | 17,281,877 | 17,286,854 | 4,978 |
| ENST00000394458.7 | hg19 | chr19 | 17,392,454 | 17,398,455 | 6,002 |
| ENST00000594072.6 | hg19 | chr19 | 17,392,508 | 17,397,663 | 5,156 |
| ENST00000652132.1 | hg19 | chr19 | 17,392,686 | 17,397,663 | 4,978 |
| ENST00000404085.7 | hg19 | chr19 | 17,392,710 | 17,398,455 | 5,746 |
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