chr22:51065757:C>T Detail (hg19) (ARSA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr22:51,065,757-51,065,757 |
| hg38 | chr22:50,627,329-50,627,329 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000487.5:c.302G>A | NP_000478.3:p.Gly101Asp |
| NM_001085425.2:c.302G>A | NP_001078894.2:p.Gly101Asp | |
| NM_001085426.2:c.302G>A | NP_001078895.2:p.Gly101Asp |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1991-05-01 | no assertion criteria provided | Metachromatic leukodystrophy, adult type |
germline
|
Detail |
|
Pathogenic
|
2023-12-03 | criteria provided, multiple submitters, no conflicts | metachromatic leukodystrophy |
germline
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.241 | Metachromatic Leukodystrophy, Adult-Type (disorder) | NA | CLINVAR | Detail | |
| 0.514 | Leukodystrophy, Metachromatic | NA | CLINVAR | Detail | |
| 0.514 | Leukodystrophy, Metachromatic | Identification of 12 novel mutations and two new polymorphisms in the arylsulfat... | UNIPROT | 10477432 | Detail |
| 0.514 | Leukodystrophy, Metachromatic | In a transient expression study, COS cells transfected with the mutant cDNA carr... | BeFree | 1673291 | Detail |
| 0.514 | Leukodystrophy, Metachromatic | She was diagnosed with MLD by genetic analysis, which revealed compound heterozy... | UNIPROT | 21265945 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) AND Metachromatic leukodystrophy, adult type | ClinVar | Detail |
| NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) AND Metachromatic leukodystrophy | ClinVar | Detail |
| NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotyp... | DisGeNET | Detail |
| In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp di... | DisGeNET | Detail |
| She was diagnosed with MLD by genetic analysis, which revealed compound heterozygous ARSA missense m... | 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
- rs74315455 dbSNP
- Genome
- hg19
- Position
- chr22:51,065,757-51,065,757
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1195
- Mean of sample read depth (HGVD)
- 89.50
- Standard deviation of sample read depth (HGVD)
- 46.08
- Number of reference allele (HGVD)
- 2389
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.1841004184100416E-4
- Gene Symbol (HGVD)
- ARSA
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs74315455
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0003
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 3058
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 6.540222367560497E-4
- Chromosome Counts in All Race (ExAC)
- 47324
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.2261854450173275E-5
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