GNMT glycine N-methyltransferase
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Benign | 0 | 28 |
Likely benign | 0 | 44 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 106 |
Ranking
ClinVar | |
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0 |
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0 |
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16 |
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160 |
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4 |
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
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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 |
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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 | HEL-S-182mP |
MIM | 606628 OMIM |
HGNC | HGNC:4415 HGNC |
Ensembl | ENSG00000124713 Ensembl |
AllianceGenome | HGNC:4415 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000372808.4 | hg38 | chr6 | 42,960,754 | 42,963,880 | 3,127 |
ENST00000372808.4 | hg19 | chr6 | 42,928,492 | 42,931,618 | 3,127 |
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