RPSA ribosomal protein SA
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 12 |
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 16 |
| Likely benign | 0 | 94 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| Uncertain significance | 0 | 80 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
6 |
 |
186 |
 |
10 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| Search word | : | |
| 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
|
| Category | : |
|
| 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 | 37LRP |
| SYNONYM | 67LR |
| SYNONYM | ICAS |
| SYNONYM | LAMBR |
| SYNONYM | LAMR1 |
| SYNONYM | LBP |
| SYNONYM | LBP/p40 |
| SYNONYM | LRP |
| SYNONYM | LRP/LR |
| SYNONYM | NEM/1CHD4 |
| SYNONYM | SA |
| SYNONYM | lamR |
| SYNONYM | p40 |
| SYNONYM | uS2 |
| MIM | 150370 OMIM |
| HGNC | HGNC:6502 HGNC |
| Ensembl | ENSG00000168028 Ensembl |
| AllianceGenome | HGNC:6502 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000443003.2 | hg38 | chr3 | 39,406,735 | 39,412,434 | 5,700 |
| ENST00000697729.1 | hg38 | chr3 | 39,406,766 | 39,412,438 | 5,673 |
| ENST00000697728.1 | hg38 | chr3 | 39,406,720 | 39,412,438 | 5,719 |
| ENST00000697730.1 | hg38 | chr3 | 39,406,934 | 39,412,438 | 5,505 |
| ENST00000697731.1 | hg38 | chr3 | 39,407,533 | 39,412,438 | 4,906 |
| ENST00000301821.11 | hg38 | chr3 | 39,406,720 | 39,412,542 | 5,823 |
| ENST00000697728.1 | hg19 | chr3 | 39,448,211 | 39,453,929 | 5,719 |
| ENST00000301821.11 | hg19 | chr3 | 39,448,211 | 39,454,033 | 5,823 |
| ENST00000443003.2 | hg19 | chr3 | 39,448,226 | 39,453,925 | 5,700 |
| ENST00000697729.1 | hg19 | chr3 | 39,448,257 | 39,453,929 | 5,673 |
| ENST00000697730.1 | hg19 | chr3 | 39,448,425 | 39,453,929 | 5,505 |
| ENST00000697731.1 | hg19 | chr3 | 39,449,024 | 39,453,929 | 4,906 |
Genome browser