CYGB cytoglobin
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 8 | 18 |
| Likely pathogenic | 0 | 6 |
| Benign | 0 | 20 |
| Likely benign | 0 | 90 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| Uncertain significance | 0 | 180 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
22 |
 |
284 |
 |
2 |
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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| 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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| 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 | HGB |
| SYNONYM | NOD |
| SYNONYM | STAP |
| MIM | 608759 OMIM |
| HGNC | HGNC:16505 HGNC |
| Ensembl | ENSG00000161544 Ensembl |
| AllianceGenome | HGNC:16505 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000293230.10 | hg38 | chr17 | 76,527,356 | 76,537,709 | 10,354 |
| ENST00000589145.1 | hg38 | chr17 | 76,528,534 | 76,551,175 | 22,642 |
| ENST00000589342.1 | hg38 | chr17 | 76,528,282 | 76,537,652 | 9,371 |
| ENST00000590175.5 | hg38 | chr17 | 76,528,368 | 76,532,065 | 3,698 |
| ENST00000293230.10 | hg19 | chr17 | 74,523,438 | 74,533,791 | 10,354 |
| ENST00000589342.1 | hg19 | chr17 | 74,524,364 | 74,533,734 | 9,371 |
| ENST00000590175.5 | hg19 | chr17 | 74,524,450 | 74,528,147 | 3,698 |
| ENST00000589145.1 | hg19 | chr17 | 74,524,616 | 74,547,257 | 22,642 |
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