CYB561 cytochrome b561
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Benign | 0 | 4 |
Likely benign | 0 | 8 |
Uncertain significance | 0 | 34 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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46 |
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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
[No Data.]
Locus Zoom
Variants
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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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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 |
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Target data | : |
MGeND data only
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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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SYNONYM | CGCytb |
SYNONYM | CYB561A1 |
SYNONYM | FRRS2 |
SYNONYM | ORTHYP2 |
MIM | 600019 OMIM |
HGNC | HGNC:2571 HGNC |
Ensembl | ENSG00000008283 Ensembl |
AllianceGenome | HGNC:2571 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000582997.5 | hg38 | chr17 | 63,434,314 | 63,440,211 | 5,898 |
ENST00000584031.5 | hg38 | chr17 | 63,432,305 | 63,446,184 | 13,880 |
ENST00000448884.6 | hg38 | chr17 | 63,433,564 | 63,446,291 | 12,728 |
ENST00000542042.5 | hg38 | chr17 | 63,434,140 | 63,438,311 | 4,172 |
ENST00000582297.5 | hg38 | chr17 | 63,433,145 | 63,446,294 | 13,150 |
ENST00000581573.5 | hg38 | chr17 | 63,433,216 | 63,437,949 | 4,734 |
ENST00000392976.5 | hg38 | chr17 | 63,432,307 | 63,446,184 | 13,878 |
ENST00000392975.6 | hg38 | chr17 | 63,432,304 | 63,440,866 | 8,563 |
ENST00000582034.5 | hg38 | chr17 | 63,433,964 | 63,446,306 | 12,343 |
ENST00000360793.8 | hg38 | chr17 | 63,432,304 | 63,446,306 | 14,003 |
ENST00000360793.8 | hg19 | chr17 | 61,509,665 | 61,523,667 | 14,003 |
ENST00000392975.6 | hg19 | chr17 | 61,509,665 | 61,518,227 | 8,563 |
ENST00000392976.5 | hg19 | chr17 | 61,509,668 | 61,523,545 | 13,878 |
ENST00000448884.6 | hg19 | chr17 | 61,510,925 | 61,523,652 | 12,728 |
ENST00000542042.5 | hg19 | chr17 | 61,511,501 | 61,515,672 | 4,172 |
ENST00000581573.5 | hg19 | chr17 | 61,510,577 | 61,515,310 | 4,734 |
ENST00000582034.5 | hg19 | chr17 | 61,511,325 | 61,523,667 | 12,343 |
ENST00000582297.5 | hg19 | chr17 | 61,510,506 | 61,523,655 | 13,150 |
ENST00000582997.5 | hg19 | chr17 | 61,511,675 | 61,517,572 | 5,898 |
ENST00000584031.5 | hg19 | chr17 | 61,509,666 | 61,523,545 | 13,880 |
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