chr6:78172750:A>C Detail (hg19) (HTR1B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:78,172,750-78,172,750 |
| hg38 | chr6:77,463,033-77,463,033 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000863.2:c.371T>G | NP_000854.1:p.Phe124Cys |
| Ensemble | ENST00000369947.5:c.371T>G | ENST00000369947.5:p.Phe124Cys |
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 | |
| 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 |
|---|---|---|
| Genomic DNA of a relatively small but very well-characterized set of migraine patients with consiste... | 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
- hg19
- Position
- chr6:78,172,750-78,172,750
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Homozygous Counts in All Race (ExAC)
- 10
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1555350127108852E-4
- Chromosome Counts in All Race (ExAC)
- 121316
- Allele Counts in All Race (ExAC)
- 1123
- Heterozygous Counts in All Race (ExAC)
- 1103
- Allele Frequency in All Race (ExAC)
- 0.009256816907909922
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