chr1:15542197:A>G Detail (hg38) (DNAJC16)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:15,868,692-15,868,692 View the variant detail on this assembly version. |
| hg38 | chr1:15,542,197-15,542,197 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_015291.3:c.575-2202A>G | |
| NM_001287811.1:c.-362-2202A>G | ||
| Ensemble | ENST00000375838.5:c.575-2202A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.565 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | 5,10-Methylenetetrahydrofolate reductase deficiency | With the aim to conclusively validate the strongest associations so far reported... | BeFree | 24521996 | Detail |
| <0.001 | 5,10-Methylenetetrahydrofolate reductase deficiency | With the aim to conclusively validate the strongest associations so far reported... | BeFree | 24521996 | Detail |
| <0.001 | 5,10-Methylenetetrahydrofolate reductase deficiency | With the aim to conclusively validate the strongest associations so far reported... | BeFree | 24521996 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| With the aim to conclusively validate the strongest associations so far reported, we selected the po... | DisGeNET | Detail |
| With the aim to conclusively validate the strongest associations so far reported, we selected the po... | DisGeNET | Detail |
| With the aim to conclusively validate the strongest associations so far reported, we selected the po... | 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
- rs7516435 dbSNP
- Genome
- hg38
- Position
- chr1:15,542,197-15,542,197
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs7516435
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5652
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9472
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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