FAM228B family with sequence similarity 228 member B
Information
- Symbol
- FAM228B
- Type
- protein-coding
- Description
- family with sequence similarity 228 member B
- Entrez Gene ID
- 375190
- Genome
- hg19
- Position
- chr2:24,346,339-24,392,507
- Genome
- hg38
- Position
- chr2:24,123,469-24,169,638
- HGNC
- HGNC:24736 HGNC
- Ensembl
- ENSG00000219626 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 8 |
| Likely benign | 0 | 28 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 57 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
92 |
 |
1 |
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 | |||||||||||||||
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000611127.4 | hg38 | chr2 | 24,124,362 | 24,167,669 | 43,308 |
| ENST00000613899.4 | hg38 | chr2 | 24,076,882 | 24,169,638 | 92,757 |
| ENST00000615575.5 | hg38 | chr2 | 24,123,469 | 24,169,638 | 46,170 |
| ENST00000613899.4 | hg19 | chr2 | 24,299,752 | 24,392,507 | 92,756 |
| ENST00000615575.5 | hg19 | chr2 | 24,346,339 | 24,392,507 | 46,169 |
| ENST00000611127.4 | hg19 | chr2 | 24,347,232 | 24,390,538 | 43,307 |
| Key | Value |
|---|---|
| strand | + |
| start | 24,299,743 |
| Gene Symbol | FAM228B |
| Entrez GeneId | 375,190 |
| Chr Band | 2p23.3 |
| end | 24,392,506 |
| chr | chr2 |
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