TMEM231 transmembrane protein 231
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 52 |
Likely pathogenic | 0 | 24 |
Benign | 0 | 70 |
Likely benign | 0 | 262 |
Conflicting classifications of pathogenicity | 0 | 42 |
Uncertain significance | 0 | 358 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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138 |
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604 |
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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
[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 | |||||
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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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | ALYE870 |
SYNONYM | JBTS20 |
SYNONYM | MKS11 |
SYNONYM | PRO1886 |
MIM | 614949 OMIM |
HGNC | HGNC:37234 HGNC |
Ensembl | ENSG00000205084 Ensembl |
AllianceGenome | HGNC:37234 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000258173.11 | hg38 | chr16 | 75,536,741 | 75,556,252 | 19,512 |
ENST00000692689.1 | hg38 | chr16 | 75,538,138 | 75,555,268 | 17,131 |
ENST00000685935.1 | hg38 | chr16 | 75,538,386 | 75,556,238 | 17,853 |
ENST00000693682.1 | hg38 | chr16 | 75,538,176 | 75,556,269 | 18,094 |
ENST00000565067.5 | hg38 | chr16 | 75,539,754 | 75,556,240 | 16,487 |
ENST00000688195.1 | hg38 | chr16 | 75,538,138 | 75,555,276 | 17,139 |
ENST00000568377.5 | hg38 | chr16 | 75,538,151 | 75,556,238 | 18,088 |
ENST00000258173.11 | hg19 | chr16 | 75,570,639 | 75,590,150 | 19,512 |
ENST00000568377.5 | hg19 | chr16 | 75,572,049 | 75,590,136 | 18,088 |
ENST00000688195.1 | hg19 | chr16 | 75,572,036 | 75,589,174 | 17,139 |
ENST00000693682.1 | hg19 | chr16 | 75,572,074 | 75,590,167 | 18,094 |
ENST00000685935.1 | hg19 | chr16 | 75,572,284 | 75,590,136 | 17,853 |
ENST00000565067.5 | hg19 | chr16 | 75,573,652 | 75,590,138 | 16,487 |
ENST00000692689.1 | hg19 | chr16 | 75,572,036 | 75,589,166 | 17,131 |
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