chr4:100234991:C>T Detail (hg19) (ADH1B)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:100,234,991-100,234,991 |
hg38 | chr4:99,313,834-99,313,834 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000668.5:c.815G>A | NP_000659.2:p.Arg272Gln |
NM_001286650.1:c.695G>A | NP_001273579.1:p.Arg232Gln | |
Ensemble | ENST00000305046.13:c.815G>A | ENST00000305046.13:p.Arg272Gln |
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
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.004 | Liver diseases | The aim of this study was to analyze the combined effect of the most frequent al... | BeFree | 22048268 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
The aim of this study was to analyze the combined effect of the most frequent alcohol dehydrogenase ... | 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
- chr4:100,234,991-100,234,991
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121386
- Allele Counts in All Race (ExAC)
- 262
- Heterozygous Counts in All Race (ExAC)
- 262
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.002158403769792233
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