SIX6 SIX homeobox 6
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Likely pathogenic | 0 | 8 |
| Benign | 0 | 12 |
| Likely benign | 0 | 74 |
| Conflicting classifications of pathogenicity | 0 | 16 |
| Uncertain significance | 0 | 122 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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26 |
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188 |
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4 |
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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| 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 | MCOPCT2 |
| SYNONYM | ODRMD |
| SYNONYM | OPTX2 |
| SYNONYM | Six9 |
| MIM | 606326 OMIM |
| HGNC | HGNC:10892 HGNC |
| Ensembl | ENSG00000184302 Ensembl |
| AllianceGenome | HGNC:10892 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000327720.6 | hg38 | chr14 | 60,509,146 | 60,512,850 | 3,705 |
| ENST00000327720.6 | hg19 | chr14 | 60,975,864 | 60,979,568 | 3,705 |
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