chr4:1002333:T>G Detail (hg38) (IDUA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:996,121-996,121 View the variant detail on this assembly version. |
| hg38 | chr4:1,002,333-1,002,333 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000203.4:c.1037T>G | NP_000194.2:p.Leu346Arg |
| NR_110313.1:c.1037T>G | ||
| Ensemble | ENST00000247933.9:c.1037T>G | ENST00000247933.9:p.Leu346Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2004-12-01 | no assertion criteria provided | Mucopolysaccharidosis, MPS-I-H/S |
germline
|
Detail |
|
Pathogenic
|
2017-11-02 | criteria provided, single submitter | Hurler syndrome |
germline
unknown
|
Detail |
|
Pathogenic
|
2024-01-02 | criteria provided, multiple submitters, no conflicts | Mucopolysaccharidosis type 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.452 | Pfaundler-Hurler Syndrome | NA | CLINVAR | Detail | |
| 0.441 | Hurler-Scheie Syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) AND Mucopolysaccharidosis, MPS-I-H/S | ClinVar | Detail |
| NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) AND Hurler syndrome | ClinVar | Detail |
| NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) AND Mucopolysaccharidosis type 1 | ClinVar | Detail |
| NA | DisGeNET | 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
- rs121965033 dbSNP
- Genome
- hg38
- Position
- chr4:1,002,333-1,002,333
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8368
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1950286806883365E-4
- Chromosome Counts in All Race (ExAC)
- 113598
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.802971883307805E-6
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