chr1:204519150:G>C Detail (hg38) (MDM4)

Information

Genome

Assembly Position
hg19 chr1:204,488,278-204,488,278 View the variant detail on this assembly version.
hg38 chr1:204,519,150-204,519,150

HGVS

Type Transcript Protein
RefSeq NM_002393.4:c.-36+2641G>C
NM_001204172.1:c.-36+2641G>C
NM_001278516.1:c.-36+2641G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.743
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602704 OMIM
HGNC 6974 HGNC
Ensembl ENSG00000198625 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4510994 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 Lip and oral cavity carcinoma To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
<0.001 Malignant neoplasm of mouth To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
0.029 Malignant neoplasm of mouth To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
<0.001 Malignant neoplasm of mouth To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
<0.001 Lip and oral cavity carcinoma To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
0.001 Malignant neoplasm of mouth To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
0.020 Lip and oral cavity carcinoma To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
0.002 prostate carcinoma Both the Mdm4 and Hausp SNPs (rs1380576 and rs1529916) were found to be associat... BeFree 20855462 Detail
0.124 Malignant neoplasm of prostate Both the Mdm4 and Hausp SNPs (rs1380576 and rs1529916) were found to be associat... BeFree 20855462 Detail
0.001 Lip and oral cavity carcinoma To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
Annotation

Annotations

DescrptionSourceLinks
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
Both the Mdm4 and Hausp SNPs (rs1380576 and rs1529916) were found to be associated with higher D'Ami... DisGeNET Detail
Both the Mdm4 and Hausp SNPs (rs1380576 and rs1529916) were found to be associated with higher D'Ami... DisGeNET Detail
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1380576 dbSNP
Genome
hg38
Position
chr1:204,519,150-204,519,150
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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))
rs1380576
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7425
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12444
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser