chr22:50626676:C>T Detail (hg38) (ARSA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr22:51,065,104-51,065,104 View the variant detail on this assembly version. |
hg38 | chr22:50,626,676-50,626,676 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000487.5:c.769G>A | NP_000478.3:p.Asp257Asn |
NM_001085426.2:c.769G>A | NP_001078895.2:p.Asp257Asn | |
NM_001085427.2:c.769G>A | NP_001078896.2:p.Asp257Asn |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-01-22 | criteria provided, single submitter | metachromatic leukodystrophy |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.514 | Leukodystrophy, Metachromatic | NA | CLINVAR | Detail | |
0.514 | Leukodystrophy, Metachromatic | Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, ... | UNIPROT | 10751093 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000487.6(ARSA):c.769G>A (p.Asp257Asn) AND Metachromatic leukodystrophy | ClinVar | Detail |
NA | DisGeNET | Detail |
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing me... | 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
- -
- Genome
- hg38
- Position
- chr22:50,626,676-50,626,676
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8638
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120448
- 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)
- 1.6604675876726885E-5
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