MEFV MEFV innate immunity regulator, pyrin
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 38 | 28 |
| Likely pathogenic | 18 | 20 |
| Benign | 0 | 90 |
| Likely benign | 0 | 840 |
| Conflicting classifications of pathogenicity | 0 | 536 |
| not provided | 0 | 66 |
| Uncertain significance | 34 | 802 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
176 |
 |
1,542 |
 |
26 |
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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| Filtering | : |
| 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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| Category | : |
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| 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 | FMF |
| SYNONYM | MEF |
| SYNONYM | PAAND |
| SYNONYM | TRIM20 |
| MIM | 608107 OMIM |
| HGNC | HGNC:6998 HGNC |
| Ensembl | ENSG00000103313 Ensembl |
| AllianceGenome | HGNC:6998 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000541159.5 | hg38 | chr16 | 3,243,141 | 3,256,587 | 13,447 |
| ENST00000339854.8 | hg38 | chr16 | 3,242,028 | 3,256,627 | 14,600 |
| ENST00000219596.6 | hg38 | chr16 | 3,242,027 | 3,256,633 | 14,607 |
| ENST00000536379.5 | hg38 | chr16 | 3,243,141 | 3,256,587 | 13,447 |
| ENST00000219596.6 | hg19 | chr16 | 3,292,027 | 3,306,633 | 14,607 |
| ENST00000339854.8 | hg19 | chr16 | 3,292,028 | 3,306,627 | 14,600 |
| ENST00000536379.5 | hg19 | chr16 | 3,293,141 | 3,306,587 | 13,447 |
| ENST00000541159.5 | hg19 | chr16 | 3,293,141 | 3,306,587 | 13,447 |
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