HLA-C major histocompatibility complex, class I, C
Information
- Symbol
- HLA-C
- Type
- protein-coding
- Description
- major histocompatibility complex, class I, C
- Entrez Gene ID
- 3107
- Genome
- hg19
- Position
- chr6:31,236,526-31,239,869
- Genome
- hg38
- Position
- chr6:31,268,749-31,272,092
- MIM
- 142840 OMIM
- HGNC
- HGNC:4933 HGNC
- Ensembl
- ENSG00000204525 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 4 |
not provided | 15 | 0 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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6 |
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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
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Category | : |
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Filtering | : |
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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Category | : |
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Search word | : | |
Filtering | : |
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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | D6S204 |
SYNONYM | HLA-JY3 |
SYNONYM | HLAC |
SYNONYM | HLC-C |
SYNONYM | MHC |
SYNONYM | PSORS1 |
MIM | 142840 OMIM |
HGNC | HGNC:4933 HGNC |
Ensembl | ENSG00000204525 Ensembl |
AllianceGenome | HGNC:4933 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000376228.10 | hg38 | chr6 | 31,268,749 | 31,272,092 | 3,344 |
ENST00000383329.7 | hg38 | chr6 | 31,268,749 | 31,272,086 | 3,338 |
ENST00000383329.7 | hg19 | chr6 | 31,236,526 | 31,239,863 | 3,338 |
ENST00000376228.10 | hg19 | chr6 | 31,236,526 | 31,239,869 | 3,344 |
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