chr1:155162067:C>T Detail (hg19) (MUC1)

Information

Genome

Assembly Position
hg19 chr1:155,162,067-155,162,067
hg38 chr1:155,192,276-155,192,276 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001204285.1:c.66G>A NP_001191214.1:p.Thr22=
NM_001044391.2:c.93G>A NP_001037856.1:p.Thr31=
NM_001044392.2:c.93G>A NP_001037857.1:p.Thr31=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.815
ToMMo:0.840
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.784

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 158340 OMIM
HGNC 7508 HGNC
Ensembl ENSG00000185499 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3322965 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-09-05 criteria provided, single submitter Tubulointerstitial kidney disease, autosomal dominant, 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.130 Malignant neoplasm of stomach The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22... BeFree 24254309 Detail
0.124 Malignant neoplasm of stomach The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22... BeFree 24254309 Detail
0.004 stomach carcinoma The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22... BeFree 24254309 Detail
0.011 stomach carcinoma The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22... BeFree 24254309 Detail
<0.001 gastritis Herein, we aimed to evaluate associations between PSCA (C&gt;T, rs2294008; G&gt;... BeFree 25503145 Detail
0.008 gastritis Polymorphisms of PSCA (rs2976392, rs2294008) and MUC1 (rs4072037) genes are asso... BeFree 25503145 Detail
<0.001 gastritis Polymorphisms of PSCA (rs2976392, rs2294008) and MUC1 (rs4072037) genes are asso... BeFree 25503145 Detail
0.130 Malignant neoplasm of stomach In conclusion, MUC1 rs4072037 polymorphism may be used as potential biomarker fo... BeFree 24755768 Detail
0.135 Stomach Neoplasms [A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and ... GAD 20729852 Detail
0.011 stomach carcinoma The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of i... BeFree 22805490 Detail
0.130 Malignant neoplasm of stomach A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and e... GWASCAT 20729852 Detail
0.130 Malignant neoplasm of stomach Functional polymorphism rs4072037 in MUC1 gene contributes to the susceptibility... BeFree 24072653 Detail
0.011 stomach carcinoma Functional polymorphism rs4072037 in MUC1 gene contributes to the susceptibility... BeFree 24072653 Detail
0.005 squamous cell carcinoma The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of i... BeFree 22805490 Detail
0.011 stomach carcinoma In conclusion, MUC1 rs4072037 polymorphism may be used as potential biomarker fo... BeFree 24755768 Detail
<0.001 Malignant Squamous Cell Neoplasm The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of i... BeFree 22805490 Detail
0.130 Malignant neoplasm of stomach The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of i... BeFree 22805490 Detail
0.036 adenocarcinoma The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of i... BeFree 22805490 Detail
0.121 Malignant neoplasm of esophagus A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and e... GWASCAT 20729852 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001204286.1(MUC1):c.93G>A (p.Thr31=) AND Tubulointerstitial kidney disease, autosomal dominant, 2 ClinVar Detail
The aim of this study was to determine whether rs4072037A &gt; G in MUC1 at 1q22 and rs2274223A &gt;... DisGeNET Detail
The aim of this study was to determine whether rs4072037A &gt; G in MUC1 at 1q22 and rs2274223A &gt;... DisGeNET Detail
The aim of this study was to determine whether rs4072037A &gt; G in MUC1 at 1q22 and rs2274223A &gt;... DisGeNET Detail
The aim of this study was to determine whether rs4072037A &gt; G in MUC1 at 1q22 and rs2274223A &gt;... DisGeNET Detail
Herein, we aimed to evaluate associations between PSCA (C&gt;T, rs2294008; G&gt;A, rs2976392), MUC1 ... DisGeNET Detail
Polymorphisms of PSCA (rs2976392, rs2294008) and MUC1 (rs4072037) genes are associated with GC and H... DisGeNET Detail
Polymorphisms of PSCA (rs2976392, rs2294008) and MUC1 (rs4072037) genes are associated with GC and H... DisGeNET Detail
In conclusion, MUC1 rs4072037 polymorphism may be used as potential biomarker for cancer susceptibil... DisGeNET Detail
[A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous ... DisGeNET Detail
The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histologic... DisGeNET Detail
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous c... DisGeNET Detail
Functional polymorphism rs4072037 in MUC1 gene contributes to the susceptibility to gastric cancer: ... DisGeNET Detail
Functional polymorphism rs4072037 in MUC1 gene contributes to the susceptibility to gastric cancer: ... DisGeNET Detail
The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histologic... DisGeNET Detail
In conclusion, MUC1 rs4072037 polymorphism may be used as potential biomarker for cancer susceptibil... DisGeNET Detail
The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histologic... DisGeNET Detail
The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histologic... DisGeNET Detail
The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histologic... DisGeNET Detail
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous c... 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
rs4072037 dbSNP
Genome
hg19
Position
chr1:155,162,067-155,162,067
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1200
Mean of sample read depth (HGVD)
70.39
Standard deviation of sample read depth (HGVD)
32.36
Number of reference allele (HGVD)
443
Number of alternative allele (HGVD)
1954
Allele Frequency (HGVD)
0.8151856487275762
Gene Symbol (HGVD)
MUC1
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))
rs4072037
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8398
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14073
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
6780
East Asian Heterozygous Counts (ExAC)
1462
East Asian Homozygous Counts (ExAC)
2659
East Asian Allele Frequency (ExAC)
0.7838150289017342
Chromosome Counts in All Race (ExAC)
121120
Allele Counts in All Race (ExAC)
70125
Heterozygous Counts in All Race (ExAC)
28697
Homozygous Counts in All Race (ExAC)
20714
Allele Frequency in All Race (ExAC)
0.5789712681638045
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