RDX radixin
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 26 |
Likely pathogenic | 0 | 14 |
Benign | 0 | 36 |
Likely benign | 0 | 122 |
Conflicting classifications of pathogenicity | 0 | 26 |
Uncertain significance | 0 | 276 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
50 |
![]() |
412 |
![]() |
8 |
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
|
Category | : |
|
Search word | : | |
Filtering | : |
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
|
Category | : |
|
Search word | : | |
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
|
Category | : |
|
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 | DFNB24 |
MIM | 179410 OMIM |
HGNC | HGNC:9944 HGNC |
Ensembl | ENSG00000137710 Ensembl |
AllianceGenome | HGNC:9944 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000528900.5 | hg38 | chr11 | 110,195,561 | 110,296,712 | 101,152 |
ENST00000645495.2 | hg38 | chr11 | 110,229,441 | 110,296,614 | 67,174 |
ENST00000528498.5 | hg38 | chr11 | 110,174,880 | 110,296,712 | 121,833 |
ENST00000530301.5 | hg38 | chr11 | 110,195,561 | 110,296,712 | 101,152 |
ENST00000544551.5 | hg38 | chr11 | 110,229,443 | 110,296,712 | 67,270 |
ENST00000647231.1 | hg38 | chr11 | 110,195,561 | 110,296,614 | 101,054 |
ENST00000528498.5 | hg19 | chr11 | 110,045,605 | 110,167,437 | 121,833 |
ENST00000528900.5 | hg19 | chr11 | 110,066,286 | 110,167,437 | 101,152 |
ENST00000530301.5 | hg19 | chr11 | 110,066,286 | 110,167,437 | 101,152 |
ENST00000544551.5 | hg19 | chr11 | 110,100,168 | 110,167,437 | 67,270 |
ENST00000645495.2 | hg19 | chr11 | 110,100,166 | 110,167,339 | 67,174 |
ENST00000647231.1 | hg19 | chr11 | 110,066,286 | 110,167,339 | 101,054 |
Genome browser