DLX5 distal-less homeobox 5
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 8 |
| Likely pathogenic | 1 | 4 |
| Benign | 0 | 18 |
| Likely benign | 0 | 28 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 44 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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8 |
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84 |
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6 |
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 | SHFM1 |
| SYNONYM | SHFM1D |
| MIM | 600028 OMIM |
| HGNC | HGNC:2918 HGNC |
| Ensembl | ENSG00000105880 Ensembl |
| AllianceGenome | HGNC:2918 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000486603.2 | hg38 | chr7 | 97,021,978 | 97,024,950 | 2,973 |
| ENST00000648378.1 | hg38 | chr7 | 97,020,396 | 97,024,831 | 4,436 |
| ENST00000648378.1 | hg19 | chr7 | 96,649,708 | 96,654,143 | 4,436 |
| ENST00000486603.2 | hg19 | chr7 | 96,651,290 | 96,654,262 | 2,973 |
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