chr1:3598900:G>A Detail (hg19) (TP73)

Information

Genome

Assembly Position
hg19 chr1:3,598,900-3,598,900
hg38 chr1:3,682,336-3,682,336 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001204184.1:c.-30G>A
NM_001204185.1:c.-30G>A
NM_005427.3:c.-30G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.250
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.309

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 601990 OMIM
HGNC 12003 HGNC
Ensembl ENSG00000078900 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv134853 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 This study investigated whether the functional polymorphisms in P53 pathway gene... BeFree 21841506 Detail
0.219 Non-small cell lung carcinoma This study investigated whether the functional polymorphisms in P53 pathway gene... BeFree 21841506 Detail
0.023 Malignant neoplasm of lung [When numeric scores were assigned to both the SNP and demographic data, and seq... GAD 19789190 Detail
Annotation

Annotations

DescrptionSourceLinks
This study investigated whether the functional polymorphisms in P53 pathway genes, P53 Arg72Pro (rs1... DisGeNET Detail
This study investigated whether the functional polymorphisms in P53 pathway genes, P53 Arg72Pro (rs1... DisGeNET Detail
[When numeric scores were assigned to both the SNP and demographic data, and sequentially combined b... 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
rs2273953 dbSNP
Genome
hg19
Position
chr1:3,598,900-3,598,900
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs2273953
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2503
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4193
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16754
East Asian Chromosome Counts (ExAC)
1578
East Asian Allele Counts (ExAC)
487
East Asian Heterozygous Counts (ExAC)
387
East Asian Homozygous Counts (ExAC)
50
East Asian Allele Frequency (ExAC)
0.3086185044359949
Chromosome Counts in All Race (ExAC)
20754
Allele Counts in All Race (ExAC)
5275
Heterozygous Counts in All Race (ExAC)
4315
Homozygous Counts in All Race (ExAC)
479
Allele Frequency in All Race (ExAC)
0.25416787125373425
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