chr1:20589208:A>C Detail (hg38) (CDA)

Information

Genome

Assembly Position
hg19 chr1:20,915,701-20,915,701 View the variant detail on this assembly version.
hg38 chr1:20,589,208-20,589,208

HGVS

Type Transcript Protein
RefSeq NM_001785.2:c.79A>C NP_001776.1:p.Lys27Gln
Ensemble ENST00000375071.4:c.79A>C ENST00000375071.4:p.Lys27Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.188
ToMMo:0.191
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.125

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 123920 OMIM
HGNC 1712 HGNC
Ensembl ENSG00000158825 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv647979 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Non-small cell lung carcinoma We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... BeFree 22052224 Detail
0.134 Non-small cell lung carcinoma We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... BeFree 22052224 Detail
0.156 Non-small cell lung carcinoma We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... BeFree 22052224 Detail
0.005 Non-small cell lung carcinoma We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... BeFree 22052224 Detail
0.219 Non-small cell lung carcinoma We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/... BeFree 22052224 Detail
0.002 Non-small cell lung carcinoma The A79C CDA polymorphism did not show a significant impact on the response rate... BeFree 24557790 Detail
0.007 Leukemia, Myelocytic, Acute The effect of CDA SNP A79C and gender on CDA expression, enzyme activity, and dr... BeFree 23287564 Detail
<0.001 Anemia, severe The A79C CDA polymorphism did not show a significant impact on the response rate... BeFree 24557790 Detail
<0.001 Xeroderma Pigmentosum, Complementation Group D Association of xeroderma pigmentosum group D (Asp312Asn, Lys751Gln) and cytidine... BeFree 24841663 Detail
0.002 Non-small cell lung carcinoma We used polymerase chain reaction-restriction fragment length polymorphism to ev... BeFree 24841663 Detail
Annotation

Annotations

DescrptionSourceLinks
We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... DisGeNET Detail
We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... DisGeNET Detail
We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... DisGeNET Detail
We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... DisGeNET Detail
We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1... DisGeNET Detail
The A79C CDA polymorphism did not show a significant impact on the response rate to gemcitabine in N... DisGeNET Detail
The effect of CDA SNP A79C and gender on CDA expression, enzyme activity, and drug pharmacokinetics/... DisGeNET Detail
The A79C CDA polymorphism did not show a significant impact on the response rate to gemcitabine in N... DisGeNET Detail
Association of xeroderma pigmentosum group D (Asp312Asn, Lys751Gln) and cytidine deaminase (Lys27Gln... DisGeNET Detail
We used polymerase chain reaction-restriction fragment length polymorphism to evaluate genetic polym... 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
hg38
Position
chr1:20,589,208-20,589,208
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1205
Mean of sample read depth (HGVD)
143.24
Standard deviation of sample read depth (HGVD)
69.74
Number of reference allele (HGVD)
1958
Number of alternative allele (HGVD)
452
Allele Frequency (HGVD)
0.187551867219917
Gene Symbol (HGVD)
CDA
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2072671
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1909
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3200
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8628
East Asian Allele Counts (ExAC)
1081
East Asian Heterozygous Counts (ExAC)
939
East Asian Homozygous Counts (ExAC)
71
East Asian Allele Frequency (ExAC)
0.12528975428836348
Chromosome Counts in All Race (ExAC)
121168
Allele Counts in All Race (ExAC)
33413
Heterozygous Counts in All Race (ExAC)
23125
Homozygous Counts in All Race (ExAC)
5144
Allele Frequency in All Race (ExAC)
0.2757576257757824
Genome browser