chr4:100268279:C>T Detail (hg19) (ADH1C)

Information

Genome

Assembly Position
hg19 chr4:100,268,279-100,268,279
hg38 chr4:99,347,122-99,347,122 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000669.4:c.143G>A NP_000660.1:p.Arg48His
NR_133005.1:c.143G>A
Ensemble ENST00000515683.6:c.143G>A ENST00000515683.6:p.Arg48His
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 Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 103730 OMIM
HGNC 251 HGNC
Ensembl ENSG00000248144 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-06-26 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Malignant neoplasm of pancreas Based on the assumption that genetic variation in carcinogen metabolism further ... BeFree 19812523 Detail
<0.001 pancreatic carcinoma Based on the assumption that genetic variation in carcinogen metabolism further ... BeFree 19812523 Detail
0.004 Liver diseases The aim of this study was to analyze the combined effect of the most frequent al... BeFree 22048268 Detail
<0.001 pancreatic carcinoma The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... BeFree 19068087 Detail
<0.001 Malignant neoplasm of pancreas The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... BeFree 19068087 Detail
0.003 Malignant neoplasm of pancreas The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... BeFree 19068087 Detail
<0.001 pancreatic carcinoma The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... BeFree 19068087 Detail
<0.001 Malignant neoplasm of pancreas The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... BeFree 19068087 Detail
0.001 pancreatic carcinoma The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... BeFree 19068087 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000669.5(ADH1C):c.143G>A (p.Arg48His) AND not provided ClinVar Detail
Based on the assumption that genetic variation in carcinogen metabolism further modifies the risk of... DisGeNET Detail
Based on the assumption that genetic variation in carcinogen metabolism further modifies the risk of... DisGeNET Detail
The aim of this study was to analyze the combined effect of the most frequent alcohol dehydrogenase ... DisGeNET Detail
The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... DisGeNET Detail
The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... DisGeNET Detail
The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... DisGeNET Detail
The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... DisGeNET Detail
The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... DisGeNET Detail
The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... 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
rs35385902 dbSNP
Genome
hg19
Position
chr4:100,268,279-100,268,279
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.155802126675913E-4
Chromosome Counts in All Race (ExAC)
121226
Allele Counts in All Race (ExAC)
160
Heterozygous Counts in All Race (ExAC)
156
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.0013198488773035488
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