chr1:204518842:C>A Detail (hg19) (MDM4)

Information

Genome

Assembly Position
hg19 chr1:204,518,842-204,518,842
hg38 chr1:204,549,714-204,549,714 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001278519.1:c.*32C>A
NM_001204172.1:c.*32C>A
NM_001278516.1:c.*1014C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.958
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.967

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 tgv4512100 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
0.080 breast carcinoma Functional MDM4 rs4245739 genetic variant, alone and in combination with P53 Arg... BeFree 23793604 Detail
0.133 Lymphoma, Non-Hodgkin The functional TP53 rs1042522 and MDM4 rs4245739 genetic variants contribute to ... BeFree 25203442 Detail
<0.001 Lymphoma, Non-Hodgkin The functional TP53 rs1042522 and MDM4 rs4245739 genetic variants contribute to ... BeFree 25203442 Detail
0.240 Malignant neoplasm of breast Functional MDM4 rs4245739 genetic variant, alone and in combination with P53 Arg... BeFree 23793604 Detail
0.133 Malignant neoplasm of breast SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), ... GWASCAT 23535733 Detail
0.124 Malignant neoplasm of prostate Identification of 23 new prostate cancer susceptibility loci using the iCOGS cus... GWASCAT 23535732 Detail
0.008 breast carcinoma Functional MDM4 rs4245739 genetic variant, alone and in combination with P53 Arg... BeFree 23793604 Detail
0.133 Malignant neoplasm of breast Functional MDM4 rs4245739 genetic variant, alone and in combination with P53 Arg... BeFree 23793604 Detail
Annotation

Annotations

DescrptionSourceLinks
Functional MDM4 rs4245739 genetic variant, alone and in combination with P53 Arg72Pro polymorphism, ... DisGeNET Detail
The functional TP53 rs1042522 and MDM4 rs4245739 genetic variants contribute to Non-Hodgkin lymphoma... DisGeNET Detail
The functional TP53 rs1042522 and MDM4 rs4245739 genetic variants contribute to Non-Hodgkin lymphoma... DisGeNET Detail
Functional MDM4 rs4245739 genetic variant, alone and in combination with P53 Arg72Pro polymorphism, ... DisGeNET Detail
SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), 2p24.1 (P = 4.6 × 10... DisGeNET Detail
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array... DisGeNET Detail
Functional MDM4 rs4245739 genetic variant, alone and in combination with P53 Arg72Pro polymorphism, ... DisGeNET Detail
Functional MDM4 rs4245739 genetic variant, alone and in combination with P53 Arg72Pro polymorphism, ... 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
rs4245739 dbSNP
Genome
hg19
Position
chr1:204,518,842-204,518,842
Variant Type
snv
Reference Allele
C
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))
rs4245739
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9584
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16062
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8154
East Asian Allele Counts (ExAC)
7887
East Asian Heterozygous Counts (ExAC)
257
East Asian Homozygous Counts (ExAC)
3815
East Asian Allele Frequency (ExAC)
0.9672553348050037
Chromosome Counts in All Race (ExAC)
102998
Allele Counts in All Race (ExAC)
79245
Heterozygous Counts in All Race (ExAC)
17923
Homozygous Counts in All Race (ExAC)
30661
Allele Frequency in All Race (ExAC)
0.769383871531486
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