RNASEH2A ribonuclease H2 subunit A
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 36 |
Likely pathogenic | 4 | 36 |
Benign | 0 | 48 |
Likely benign | 0 | 440 |
Conflicting classifications of pathogenicity | 0 | 30 |
not provided | 0 | 4 |
Uncertain significance | 0 | 384 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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100 |
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830 |
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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
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 |
Search Word
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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Search word | : | |
Filtering | : |
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 |
---|---|
SYNONYM | AGS4 |
SYNONYM | JUNB |
SYNONYM | RNASEHI |
SYNONYM | RNHIA |
SYNONYM | RNHL |
MIM | 606034 OMIM |
HGNC | HGNC:18518 HGNC |
Ensembl | ENSG00000104889 Ensembl |
AllianceGenome | HGNC:18518 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000221486.6 | hg38 | chr19 | 12,806,584 | 12,813,640 | 7,057 |
ENST00000221486.6 | hg19 | chr19 | 12,917,398 | 12,924,454 | 7,057 |
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