ANKRD23 ankyrin repeat domain 23
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 36 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
38 |
 |
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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| 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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| 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 | DARP |
| SYNONYM | MARP3 |
| MIM | 610736 OMIM |
| HGNC | HGNC:24470 HGNC |
| Ensembl | ENSG00000163126 Ensembl |
| AllianceGenome | HGNC:24470 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000318357.9 | hg38 | chr2 | 96,837,912 | 96,844,021 | 6,110 |
| ENST00000418232.5 | hg38 | chr2 | 96,837,914 | 96,844,005 | 6,092 |
| ENST00000331001.2 | hg38 | chr2 | 96,837,915 | 96,844,021 | 6,107 |
| ENST00000318357.9 | hg19 | chr2 | 97,503,649 | 97,509,758 | 6,110 |
| ENST00000418232.5 | hg19 | chr2 | 97,503,651 | 97,509,742 | 6,092 |
| ENST00000331001.2 | hg19 | chr2 | 97,503,652 | 97,509,758 | 6,107 |
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