chr4:55434518:C>T Detail (hg38) (CLOCK)

Information

Genome

Assembly Position
hg19 chr4:56,300,685-56,300,685 View the variant detail on this assembly version.
hg38 chr4:55,434,518-55,434,518

HGVS

Type Transcript Protein
RefSeq NM_004898.3:c.*897G>A
Ensemble ENST00000309964.8:c.*897G>A
ENST00000513440.6:c.*897G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.619
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 601851 OMIM
HGNC 2082 HGNC
Ensembl ENSG00000134852 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv17055415 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 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.002 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.001 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
<0.001 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.002 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.003 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.009 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.002 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.002 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.003 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.002 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.001 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
Annotation

Annotations

DescrptionSourceLinks
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... 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
rs3749474 dbSNP
Genome
hg38
Position
chr4:55,434,518-55,434,518
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs3749474
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6187
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10369
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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