MR1 major histocompatibility complex, class I-related
Information
- Symbol
- MR1
- Type
- protein-coding
- Description
- major histocompatibility complex, class I-related
- Entrez Gene ID
- 3140
- Genome
- hg19
- Position
- chr1:181,002,510-181,031,074
- Genome
- hg38
- Position
- chr1:181,033,374-181,061,938
- MIM
- 600764 OMIM
- HGNC
- HGNC:4975 HGNC
- Ensembl
- ENSG00000153029 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 2 |
Likely benign | 0 | 8 |
Uncertain significance | 0 | 36 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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42 |
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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
[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 |
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 | HLALS |
MIM | 600764 OMIM |
HGNC | HGNC:4975 HGNC |
Ensembl | ENSG00000153029 Ensembl |
AllianceGenome | HGNC:4975 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000282990.10 | hg38 | chr1 | 181,034,003 | 181,056,553 | 22,551 |
ENST00000367579.7 | hg38 | chr1 | 181,034,003 | 181,055,523 | 21,521 |
ENST00000434571.7 | hg38 | chr1 | 181,033,931 | 181,055,589 | 21,659 |
ENST00000617803.5 | hg38 | chr1 | 181,033,987 | 181,055,714 | 21,728 |
ENST00000367580.6 | hg38 | chr1 | 181,033,983 | 181,061,938 | 27,956 |
ENST00000614012.5 | hg38 | chr1 | 181,033,374 | 181,061,938 | 28,565 |
ENST00000683652.1 | hg38 | chr1 | 181,033,987 | 181,056,501 | 22,515 |
ENST00000614012.5 | hg19 | chr1 | 181,002,510 | 181,031,074 | 28,565 |
ENST00000434571.7 | hg19 | chr1 | 181,003,067 | 181,024,725 | 21,659 |
ENST00000367580.6 | hg19 | chr1 | 181,003,119 | 181,031,074 | 27,956 |
ENST00000617803.5 | hg19 | chr1 | 181,003,123 | 181,024,850 | 21,728 |
ENST00000683652.1 | hg19 | chr1 | 181,003,123 | 181,025,637 | 22,515 |
ENST00000367579.7 | hg19 | chr1 | 181,003,139 | 181,024,659 | 21,521 |
ENST00000282990.10 | hg19 | chr1 | 181,003,139 | 181,025,689 | 22,551 |
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