chr1:155238624:G>A Detail (hg38) (GBA1, LOC106627981)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:155,208,415-155,208,415 View the variant detail on this assembly version. |
| hg38 | chr1:155,238,624-155,238,624 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001005741.2:c.481C>T | NP_001005741.1:p.Pro161Ser |
| NM_001005742.2:c.481C>T | NP_001005742.1:p.Pro161Ser | |
| NM_000157.3:c.481C>T | NP_000148.2:p.Pro161Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
1993-06-15 | no assertion criteria provided | Gaucher disease type I |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.445 | Gaucher Disease, Type 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000157.4(GBA1):c.481C>T (p.Pro161Ser) AND Gaucher disease type I | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs121908299 dbSNP
- Genome
- hg38
- Position
- chr1:155,238,624-155,238,624
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser