chr1:20604981:G>A Detail (hg38) (CDA)

Information

Genome

Assembly Position
hg19 chr1:20,931,474-20,931,474 View the variant detail on this assembly version.
hg38 chr1:20,604,981-20,604,981

HGVS

Type Transcript Protein
RefSeq NM_001785.2:c.208G>A NP_001776.1:p.Ala70Thr
Ensemble ENST00000375071.4:c.208G>A ENST00000375071.4:p.Ala70Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.037
ToMMo:0.041
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.004

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 tgv648387 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
<0.001 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
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
chr1:20,604,981-20,604,981
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
59.93
Standard deviation of sample read depth (HGVD)
27.83
Number of reference allele (HGVD)
2325
Number of alternative allele (HGVD)
89
Allele Frequency (HGVD)
0.03686826843413422
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))
rs60369023
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0405
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
679
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8536
East Asian Allele Counts (ExAC)
30
East Asian Heterozygous Counts (ExAC)
30
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.003514526710402999
Chromosome Counts in All Race (ExAC)
116052
Allele Counts in All Race (ExAC)
34
Heterozygous Counts in All Race (ExAC)
34
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.929721159480233E-4
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