chr1:97981343:A>C Detail (hg19) (DPYD)

Information

Genome

Assembly Position
hg19 chr1:97,981,343-97,981,343
hg38 chr1:97,515,787-97,515,787 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000110.3:c.1679T>G NP_000101.2:p.Ile560Ser
Ensemble ENST00000370192.8:c.1679T>G ENST00000370192.8:p.Ile560Ser
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 drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 612779 OMIM
HGNC 3012 HGNC
Ensembl ENSG00000188641 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
Pathogenic 2023-09-24 criteria provided, multiple submitters, no conflicts not provided unknown germline Detail
Pathogenic Likely pathogenic 2022-01-27 criteria provided, multiple submitters, no conflicts dihydropyrimidine dehydrogenase deficiency unknown germline Detail
drug response 2021-05-24 reviewed by expert panel germline Detail
drug response 2021-05-24 reviewed by expert panel germline Detail
drug response 2021-05-24 reviewed by expert panel germline Detail
drug response 2021-05-26 reviewed by expert panel germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer Fluorouracil,Capecitabine,Tegafur A Predictive Supports Adverse Response Common Germline 5 23988873 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
The Clinical Pharmacogenomics Implementation Consortium Guidelines for DPYD genotype and 5-FU dosing... CIViC Evidence Detail
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) AND not provided ClinVar Detail
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) AND Dihydropyrimidine dehydrogenase deficiency ClinVar Detail
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) AND fluorouracil response - Toxicity ClinVar Detail
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) AND fluorouracil response - Other ClinVar Detail
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) AND capecitabine response - Toxicity ClinVar Detail
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) AND tegafur response - Toxicity ClinVar 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
rs55886062 dbSNP
Genome
hg19
Position
chr1:97,981,343-97,981,343
Variant Type
snv
Reference Allele
A
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8626
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)
120640
Allele Counts in All Race (ExAC)
42
Heterozygous Counts in All Race (ExAC)
42
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.4814323607427057E-4
Variant (CIViC) (CIViC Variant)
DPYD*13 HOMOZYGOSITY
Transcript 1 (CIViC Variant)
ENST00000370192.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/738
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