chr1:173807344:C>T Detail (hg19) (DARS2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:173,807,344-173,807,344 |
| hg38 | chr1:173,838,206-173,838,206 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000649689.2:c.787C>T | ENST00000649689.2:p.Arg263Ter |
| ENST00000647645.1:c.787C>T | ENST00000647645.1:p.Arg263Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
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
|
2023-04-11 | criteria provided, single submitter | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
germline
paternal
|
Detail |
|
Pathogenic
|
2023-02-13 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.481 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_018122.5(DARS2):c.787C>T (p.Arg263Ter) AND Leukoencephalopathy with brain stem and spinal cord in... | ClinVar | Detail |
| NM_018122.5(DARS2):c.787C>T (p.Arg263Ter) AND not provided | ClinVar | 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
- rs121918206 dbSNP
- Genome
- hg19
- Position
- chr1:173,807,344-173,807,344
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 88.70
- Standard deviation of sample read depth (HGVD)
- 37.06
- Number of reference allele (HGVD)
- 2419
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.1322314049586776E-4
- Gene Symbol (HGVD)
- DARS2
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