ISOC2 isochorismatase domain containing 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 50 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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50 |
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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
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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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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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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MIM | 612928 OMIM |
HGNC | HGNC:26278 HGNC |
Ensembl | ENSG00000063241 Ensembl |
AllianceGenome | HGNC:26278 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000438389.6 | hg38 | chr19 | 55,452,985 | 55,462,343 | 9,359 |
ENST00000425675.7 | hg38 | chr19 | 55,452,985 | 55,461,642 | 8,658 |
ENST00000085068.7 | hg38 | chr19 | 55,452,989 | 55,461,645 | 8,657 |
ENST00000425675.7 | hg19 | chr19 | 55,964,352 | 55,973,009 | 8,658 |
ENST00000438389.6 | hg19 | chr19 | 55,964,352 | 55,973,710 | 9,359 |
ENST00000085068.7 | hg19 | chr19 | 55,964,356 | 55,973,012 | 8,657 |
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