chr1:20945055:C>T Detail (hg19) (CDA)

Information

Genome

Assembly Position
hg19 chr1:20,945,055-20,945,055
hg38 chr1:20,618,562-20,618,562 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001785.2:c.435C>T NP_001776.1:p.Thr145=
Ensemble ENST00000375071.4:c.435C>T ENST00000375071.4:p.Thr145=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.268
ToMMo:0.286
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.239

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 tgv648818 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
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

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
chr1:20,945,055-20,945,055
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1129
Mean of sample read depth (HGVD)
30.10
Standard deviation of sample read depth (HGVD)
15.90
Number of reference allele (HGVD)
1652
Number of alternative allele (HGVD)
606
Allele Frequency (HGVD)
0.2683790965456156
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))
rs1048977
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2862
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4796
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8632
East Asian Allele Counts (ExAC)
2066
East Asian Heterozygous Counts (ExAC)
1596
East Asian Homozygous Counts (ExAC)
235
East Asian Allele Frequency (ExAC)
0.23934198331788692
Chromosome Counts in All Race (ExAC)
121114
Allele Counts in All Race (ExAC)
37399
Heterozygous Counts in All Race (ExAC)
25547
Homozygous Counts in All Race (ExAC)
5926
Allele Frequency in All Race (ExAC)
0.3087917168948264
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