ZMAT5 zinc finger matrin-type 5
Clinical Significance
MGeND | ClinVar | |
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Uncertain significance | 0 | 12 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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12 |
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0 |
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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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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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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 | SNRNP20 |
SYNONYM | U11/U12-20K |
SYNONYM | ZC3H19 |
MIM | 619741 OMIM |
HGNC | HGNC:28046 HGNC |
Ensembl | ENSG00000100319 Ensembl |
AllianceGenome | HGNC:28046 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000344318.4 | hg38 | chr22 | 29,730,956 | 29,767,007 | 36,052 |
ENST00000344318.4 | hg19 | chr22 | 30,126,945 | 30,162,996 | 36,052 |
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