DSCR8 Down syndrome critical region 8
Clinical Significance
MGeND | ClinVar |
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Ranking
ClinVar | |
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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 |
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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 | C21orf65 |
SYNONYM | CT25.1a |
SYNONYM | CT25.1b |
SYNONYM | MMA-1 |
SYNONYM | MMA-1a |
SYNONYM | MMA-1b |
SYNONYM | MMA1 |
SYNONYM | MTAG2 |
MIM | 613396 OMIM |
HGNC | HGNC:16707 HGNC |
Ensembl | ENSG00000198054 Ensembl |
AllianceGenome | HGNC:16707 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000465532.5 | hg38 | chr21 | 38,121,473 | 38,156,511 | 35,039 |
ENST00000465532.5 | hg19 | chr21 | 39,493,567 | 39,528,605 | 35,039 |
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