NFKBIA NFKB inhibitor alpha
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 3 | 20 |
| Likely pathogenic | 0 | 2 |
| Benign | 4 | 80 |
| Likely benign | 0 | 218 |
| Conflicting classifications of pathogenicity | 0 | 16 |
| not provided | 4 | 0 |
| Uncertain significance | 0 | 250 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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70 |
![]() |
472 |
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16 |
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
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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 | |||||||||||
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | EDAID2 |
| SYNONYM | IKBA |
| SYNONYM | MAD-3 |
| SYNONYM | NFKBI |
| MIM | 164008 OMIM |
| HGNC | HGNC:7797 HGNC |
| Ensembl | ENSG00000100906 Ensembl |
| AllianceGenome | HGNC:7797 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000557389.1 | hg38 | chr14 | 35,401,545 | 35,404,140 | 2,596 |
| ENST00000216797.10 | hg38 | chr14 | 35,401,513 | 35,404,749 | 3,237 |
| ENST00000697962.1 | hg38 | chr14 | 35,401,926 | 35,403,779 | 1,854 |
| ENST00000697961.1 | hg38 | chr14 | 35,401,552 | 35,404,749 | 3,198 |
| ENST00000557140.5 | hg38 | chr14 | 35,401,540 | 35,404,746 | 3,207 |
| ENST00000216797.10 | hg19 | chr14 | 35,870,719 | 35,873,955 | 3,237 |
| ENST00000557389.1 | hg19 | chr14 | 35,870,751 | 35,873,346 | 2,596 |
| ENST00000557140.5 | hg19 | chr14 | 35,870,746 | 35,873,952 | 3,207 |
| ENST00000697961.1 | hg19 | chr14 | 35,870,758 | 35,873,955 | 3,198 |
| ENST00000697962.1 | hg19 | chr14 | 35,871,132 | 35,872,985 | 1,854 |
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