OAS1 2'-5'-oligoadenylate synthetase 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 0 | 74 |
| Likely benign | 0 | 186 |
| Conflicting classifications of pathogenicity | 0 | 10 |
| not provided | 3 | 0 |
| Uncertain significance | 0 | 302 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
![]() |
50 |
![]() |
502 |
![]() |
6 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | E18/E16 |
| SYNONYM | IFI-4 |
| SYNONYM | IMD100 |
| SYNONYM | OIAS |
| SYNONYM | OIASI |
| MIM | 164350 OMIM |
| HGNC | HGNC:8086 HGNC |
| Ensembl | ENSG00000089127 Ensembl |
| AllianceGenome | HGNC:8086 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000679971.1 | hg38 | chr12 | 112,906,949 | 112,919,903 | 12,955 |
| ENST00000681700.1 | hg38 | chr12 | 112,906,992 | 112,919,903 | 12,912 |
| ENST00000551241.6 | hg38 | chr12 | 112,907,007 | 112,933,219 | 26,213 |
| ENST00000553152.2 | hg38 | chr12 | 112,906,962 | 112,919,892 | 12,931 |
| ENST00000680659.1 | hg38 | chr12 | 112,906,962 | 112,919,904 | 12,943 |
| ENST00000202917.10 | hg38 | chr12 | 112,906,962 | 112,919,903 | 12,942 |
| ENST00000550883.2 | hg38 | chr12 | 112,906,962 | 112,919,715 | 12,754 |
| ENST00000550689.2 | hg38 | chr12 | 112,907,018 | 112,916,955 | 9,938 |
| ENST00000553185.2 | hg38 | chr12 | 112,907,038 | 112,909,018 | 1,981 |
| ENST00000679467.1 | hg38 | chr12 | 112,906,962 | 112,919,903 | 12,942 |
| ENST00000680934.1 | hg38 | chr12 | 112,906,973 | 112,919,903 | 12,931 |
| ENST00000679841.1 | hg38 | chr12 | 112,907,018 | 112,917,779 | 10,762 |
| ENST00000679987.1 | hg38 | chr12 | 112,906,995 | 112,919,903 | 12,909 |
| ENST00000540589.3 | hg38 | chr12 | 112,906,962 | 112,932,142 | 25,181 |
| ENST00000675868.2 | hg38 | chr12 | 112,906,962 | 112,917,948 | 10,987 |
| ENST00000552526.2 | hg38 | chr12 | 112,906,962 | 112,932,142 | 25,181 |
| ENST00000445409.7 | hg38 | chr12 | 112,906,783 | 112,919,909 | 13,127 |
| ENST00000452357.7 | hg38 | chr12 | 112,906,777 | 112,919,903 | 13,127 |
| ENST00000680455.1 | hg38 | chr12 | 112,907,007 | 112,919,903 | 12,897 |
| ENST00000679494.1 | hg38 | chr12 | 112,907,032 | 112,919,888 | 12,857 |
| ENST00000681228.1 | hg38 | chr12 | 112,906,968 | 112,919,898 | 12,931 |
| ENST00000680189.1 | hg38 | chr12 | 112,905,856 | 112,919,898 | 14,043 |
| ENST00000452357.7 | hg19 | chr12 | 113,344,582 | 113,357,708 | 13,127 |
| ENST00000445409.7 | hg19 | chr12 | 113,344,588 | 113,357,714 | 13,127 |
| ENST00000552526.2 | hg19 | chr12 | 113,344,767 | 113,369,947 | 25,181 |
| ENST00000540589.3 | hg19 | chr12 | 113,344,767 | 113,369,947 | 25,181 |
| ENST00000679467.1 | hg19 | chr12 | 113,344,767 | 113,357,708 | 12,942 |
| ENST00000202917.10 | hg19 | chr12 | 113,344,767 | 113,357,708 | 12,942 |
| ENST00000550883.2 | hg19 | chr12 | 113,344,767 | 113,357,520 | 12,754 |
| ENST00000675868.2 | hg19 | chr12 | 113,344,767 | 113,355,753 | 10,987 |
| ENST00000553152.2 | hg19 | chr12 | 113,344,767 | 113,357,697 | 12,931 |
| ENST00000680659.1 | hg19 | chr12 | 113,344,767 | 113,357,709 | 12,943 |
| ENST00000550689.2 | hg19 | chr12 | 113,344,823 | 113,354,760 | 9,938 |
| ENST00000551241.6 | hg19 | chr12 | 113,344,812 | 113,371,024 | 26,213 |
| ENST00000679494.1 | hg19 | chr12 | 113,344,837 | 113,357,693 | 12,857 |
| ENST00000679841.1 | hg19 | chr12 | 113,344,823 | 113,355,584 | 10,762 |
| ENST00000679987.1 | hg19 | chr12 | 113,344,800 | 113,357,708 | 12,909 |
| ENST00000680455.1 | hg19 | chr12 | 113,344,812 | 113,357,708 | 12,897 |
| ENST00000553185.2 | hg19 | chr12 | 113,344,843 | 113,346,823 | 1,981 |
| ENST00000680934.1 | hg19 | chr12 | 113,344,778 | 113,357,708 | 12,931 |
| ENST00000679971.1 | hg19 | chr12 | 113,344,754 | 113,357,708 | 12,955 |
| ENST00000680189.1 | hg19 | chr12 | 113,343,661 | 113,357,703 | 14,043 |
| ENST00000681228.1 | hg19 | chr12 | 113,344,773 | 113,357,703 | 12,931 |
| ENST00000681700.1 | hg19 | chr12 | 113,344,797 | 113,357,708 | 12,912 |
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