PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1
Information
- Symbol
- PRPS1L1
- Type
- protein-coding
- Description
- phosphoribosyl pyrophosphate synthetase 1 like 1
- Entrez Gene ID
- 221823
- Genome
- hg19
- Position
- chr7:18,066,393-18,067,469
- Genome
- hg38
- Position
- chr7:18,026,770-18,027,846
- MIM
- 611566 OMIM
- HGNC
- HGNC:9463 HGNC
- Ensembl
- ENSG00000229937 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 44 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
44 |
![]() |
0 |
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 | PRPS1 |
SYNONYM | PRPS3 |
SYNONYM | PRPSL |
SYNONYM | PRS-III |
MIM | 611566 OMIM |
HGNC | HGNC:9463 HGNC |
Ensembl | ENSG00000229937 Ensembl |
AllianceGenome | HGNC:9463 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000506618.5 | hg38 | chr7 | 18,026,770 | 18,027,846 | 1,077 |
ENST00000506618.5 | hg19 | chr7 | 18,066,393 | 18,067,469 | 1,077 |
Genome browser