chr4:997263:G>A Detail (hg19) (IDUA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:997,263-997,263 |
| hg38 | chr4:1,003,475-1,003,475 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000203.4:c.1650+5G>A | |
| NR_110313.1:c.1650+5G>A | ||
| Ensemble | ENST00000247933.9:c.1650+5G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2017-08-03 | criteria provided, single submitter | Hurler syndrome |
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2019-11-07 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-04-23 | criteria provided, single submitter | Mucopolysaccharidosis type 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.452 | Pfaundler-Hurler Syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000203.5(IDUA):c.1650+5G>A AND Hurler syndrome | ClinVar | Detail |
| NM_000203.5(IDUA):c.1650+5G>A AND not provided | ClinVar | Detail |
| NM_000203.5(IDUA):c.1650+5G>A AND Mucopolysaccharidosis type 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs398123256 dbSNP
- Genome
- hg19
- Position
- chr4:997,263-997,263
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser