ARMC12 armadillo repeat containing 12
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 6 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 38 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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36 |
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10 |
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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| 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 | C6orf81 |
| SYNONYM | SPGF90 |
| MIM | 620377 OMIM |
| HGNC | HGNC:21099 HGNC |
| Ensembl | ENSG00000157343 Ensembl |
| AllianceGenome | HGNC:21099 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000373869.7 | hg38 | chr6 | 35,737,032 | 35,748,911 | 11,880 |
| ENST00000373866.4 | hg38 | chr6 | 35,737,032 | 35,749,079 | 12,048 |
| ENST00000288065.6 | hg38 | chr6 | 35,737,082 | 35,748,908 | 11,827 |
| ENST00000373869.7 | hg19 | chr6 | 35,704,809 | 35,716,688 | 11,880 |
| ENST00000373866.4 | hg19 | chr6 | 35,704,809 | 35,716,856 | 12,048 |
| ENST00000288065.6 | hg19 | chr6 | 35,704,859 | 35,716,685 | 11,827 |
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