chr22:50625657:A>T Detail (hg38) (ARSA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr22:51,064,085-51,064,085 View the variant detail on this assembly version. |
hg38 | chr22:50,625,657-50,625,657 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000487.5:c.1132T>A | NP_000478.3:p.Tyr378Asn |
NM_001085426.2:c.1132T>A | NP_001078895.2:p.Tyr378Asn | |
NM_001085427.2:c.1132T>A | NP_001078896.2:p.Tyr378Asn |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.514 | Leukodystrophy, Metachromatic | Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with me... | UNIPROT | 18693274 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000487.6(ARSA):c.1132T>A (p.Tyr378Asn) AND not provided | ClinVar | Detail |
NM_000487.6(ARSA):c.1132T>A (p.Tyr378Asn) AND Metachromatic leukodystrophy | ClinVar | Detail |
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodys... | 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
- rs199476344 dbSNP
- Genome
- hg38
- Position
- chr22:50,625,657-50,625,657
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
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