MAT2A methionine adenosyltransferase 2A
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 48 |
Likely benign | 0 | 278 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 126 |
Ranking
ClinVar | |
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0 |
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0 |
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104 |
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324 |
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2 |
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 |
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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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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 | MATA2 |
SYNONYM | MATII |
SYNONYM | SAMS2 |
MIM | 601468 OMIM |
HGNC | HGNC:6904 HGNC |
Ensembl | ENSG00000168906 Ensembl |
AllianceGenome | HGNC:6904 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000409017.1 | hg38 | chr2 | 85,539,642 | 85,543,608 | 3,967 |
ENST00000306434.8 | hg38 | chr2 | 85,539,168 | 85,545,281 | 6,114 |
ENST00000306434.8 | hg19 | chr2 | 85,766,291 | 85,772,404 | 6,114 |
ENST00000409017.1 | hg19 | chr2 | 85,766,765 | 85,770,731 | 3,967 |
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