chr4:1003418:C>G Detail (hg38) (IDUA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:997,206-997,206 View the variant detail on this assembly version. |
| hg38 | chr4:1,003,418-1,003,418 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000203.4:c.1598C>G | NP_000194.2:p.Pro533Arg |
| NR_110313.1:c.1598C>G | ||
| Ensemble | ENST00000247933.9:c.1598C>G | ENST00000247933.9:p.Pro533Arg |
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
|
2019-07-03 | criteria provided, single submitter | Hurler syndrome |
germline
unknown
|
Detail |
|
Pathogenic
|
2024-01-30 | criteria provided, multiple submitters, no conflicts | Mucopolysaccharidosis type 1 |
germline
|
Detail |
|
Pathogenic
|
2023-04-27 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-03-16 | criteria provided, single submitter | Hurler syndrome,Mucopolysaccharidosis, MPS-I-H/S,Mucopolysaccharidosis, MPS-I-S |
unknown
|
Detail |
|
Pathogenic
|
2022-03-16 | criteria provided, single submitter | Hurler syndrome,Mucopolysaccharidosis, MPS-I-H/S,Mucopolysaccharidosis, MPS-I-S |
unknown
|
Detail |
|
Pathogenic
|
2022-03-16 | criteria provided, single submitter | Hurler syndrome,Mucopolysaccharidosis, MPS-I-H/S,Mucopolysaccharidosis, MPS-I-S |
unknown
|
Detail |
|
Pathogenic
|
2022-03-31 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.452 | Pfaundler-Hurler Syndrome | NA | CLINVAR | Detail | |
| 0.452 | Pfaundler-Hurler Syndrome | alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler ph... | BeFree | 1301941 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) AND Hurler syndrome | ClinVar | Detail |
| NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) AND Mucopolysaccharidosis type 1 | ClinVar | Detail |
| NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) AND not provided | ClinVar | Detail |
| NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) AND multiple conditions | ClinVar | Detail |
| NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) AND multiple conditions | ClinVar | Detail |
| NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) AND multiple conditions | ClinVar | Detail |
| NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) AND Inborn genetic diseases | ClinVar | Detail |
| NA | DisGeNET | Detail |
| alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. | 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
- rs121965021 dbSNP
- Genome
- hg38
- Position
- chr4:1,003,418-1,003,418
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser