IGFALS insulin like growth factor binding protein acid labile subunit
Information
- Symbol
- IGFALS
- Type
- protein-coding
- Description
- insulin like growth factor binding protein acid labile subunit
- Entrez Gene ID
- 3483
- Genome
- hg19
- Position
- chr16:1,840,477-1,843,733
- Genome
- hg38
- Position
- chr16:1,790,476-1,793,732
- MIM
- 601489 OMIM
- HGNC
- HGNC:5468 HGNC
- Ensembl
- ENSG00000099769 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 8 |
| Likely pathogenic | 0 | 8 |
| Benign | 0 | 40 |
| Likely benign | 0 | 48 |
| Conflicting classifications of pathogenicity | 0 | 16 |
| other | 2 | 0 |
| Uncertain significance | 0 | 236 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
44 |
 |
284 |
 |
6 |
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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| Search word | : | |
| 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 | ACLSD |
| SYNONYM | ALS |
| MIM | 601489 OMIM |
| HGNC | HGNC:5468 HGNC |
| Ensembl | ENSG00000099769 Ensembl |
| AllianceGenome | HGNC:5468 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000415638.3 | hg38 | chr16 | 1,790,476 | 1,793,732 | 3,257 |
| ENST00000215539.4 | hg38 | chr16 | 1,790,413 | 1,793,705 | 3,293 |
| ENST00000568221.1 | hg38 | chr16 | 1,791,805 | 1,794,971 | 3,167 |
| ENST00000215539.4 | hg19 | chr16 | 1,840,414 | 1,843,706 | 3,293 |
| ENST00000415638.3 | hg19 | chr16 | 1,840,477 | 1,843,733 | 3,257 |
| ENST00000568221.1 | hg19 | chr16 | 1,841,806 | 1,844,972 | 3,167 |
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