chr4:100234991:C>T Detail (hg19) (ADH1B)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

ADH1B

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
	ENST00000506651.5:c.695G>A	ENST00000506651.5:p.Arg232Gln
	ENST00000625860.2:c.695G>A	ENST00000625860.2:p.Arg232Gln

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

Links

ADH1B

Type	Database	ID	Link
Gene	MIM	103720	OMIM
	HGNC	250	HGNC
	Ensembl	ENSG00000196616	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM2951294	COSMIC
	MONDO

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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