chr8:32750356:T>G Detail (hg38) (NRG1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:32,607,874-32,607,874 View the variant detail on this assembly version. |
| hg38 | chr8:32,750,356-32,750,356 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001160004.2:c.692-4016T>G | |
| NM_013956.4:c.692-4016T>G | ||
| NM_013957.4:c.692-4016T>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.337 | |
| 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
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Polymorphisms at the loci of nearby genes for NRG1 (rs4512342) and ERO1LB (rs10924993) were associat... | DisGeNET | Detail |
| Polymorphisms at the loci of nearby genes for NRG1 (rs4512342) and ERO1LB (rs10924993) were associat... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs4512342 dbSNP
- Genome
- hg38
- Position
- chr8:32,750,356-32,750,356
- Variant Type
- snv
- Reference Allele
- T
- 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))
- rs4512342
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3372
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5652
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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