METTL23 methyltransferase 23, arginine
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 20 |
Likely pathogenic | 0 | 22 |
Benign | 0 | 8 |
Likely benign | 0 | 12 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 50 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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22 |
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72 |
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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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Search word | : | |
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 |
---|---|
SYNONYM | C17orf95 |
SYNONYM | MRT44 |
MIM | 615262 OMIM |
HGNC | HGNC:26988 HGNC |
Ensembl | ENSG00000181038 Ensembl |
AllianceGenome | HGNC:26988 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000591571.5 | hg38 | chr17 | 76,726,839 | 76,733,598 | 6,760 |
ENST00000615984.4 | hg38 | chr17 | 76,726,830 | 76,733,879 | 7,050 |
ENST00000588822.1 | hg38 | chr17 | 76,726,870 | 76,733,758 | 6,889 |
ENST00000589977.5 | hg38 | chr17 | 76,726,830 | 76,733,516 | 6,687 |
ENST00000341249.11 | hg38 | chr17 | 76,726,839 | 76,733,880 | 7,042 |
ENST00000586752.5 | hg38 | chr17 | 76,726,851 | 76,733,738 | 6,888 |
ENST00000588302.5 | hg38 | chr17 | 76,726,851 | 76,733,880 | 7,030 |
ENST00000588783.5 | hg38 | chr17 | 76,726,843 | 76,733,936 | 7,094 |
ENST00000586738.5 | hg38 | chr17 | 76,726,843 | 76,733,866 | 7,024 |
ENST00000586200.1 | hg38 | chr17 | 76,726,965 | 76,733,686 | 6,722 |
ENST00000590964.5 | hg38 | chr17 | 76,726,854 | 76,733,878 | 7,025 |
ENST00000589977.5 | hg19 | chr17 | 74,722,912 | 74,729,598 | 6,687 |
ENST00000615984.4 | hg19 | chr17 | 74,722,912 | 74,729,961 | 7,050 |
ENST00000591571.5 | hg19 | chr17 | 74,722,921 | 74,729,680 | 6,760 |
ENST00000341249.11 | hg19 | chr17 | 74,722,921 | 74,729,962 | 7,042 |
ENST00000586738.5 | hg19 | chr17 | 74,722,925 | 74,729,948 | 7,024 |
ENST00000588783.5 | hg19 | chr17 | 74,722,925 | 74,730,018 | 7,094 |
ENST00000586752.5 | hg19 | chr17 | 74,722,933 | 74,729,820 | 6,888 |
ENST00000588302.5 | hg19 | chr17 | 74,722,933 | 74,729,962 | 7,030 |
ENST00000590964.5 | hg19 | chr17 | 74,722,936 | 74,729,960 | 7,025 |
ENST00000588822.1 | hg19 | chr17 | 74,722,952 | 74,729,840 | 6,889 |
ENST00000586200.1 | hg19 | chr17 | 74,723,047 | 74,729,768 | 6,722 |
Key | Value |
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strand | + |
start | 74,722,911 |
Gene Symbol | METTL23 |
Entrez GeneId | 124,512 |
Chr Band | 17q25.1 |
end | 74,729,962 |
chr | chr17 |
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