chr14:64295199:A>C Detail (hg38) (ESR2)

Information

Genome

Assembly Position
hg19 chr14:64,761,917-64,761,917 View the variant detail on this assembly version.
hg38 chr14:64,295,199-64,295,199

HGVS

Type Transcript Protein
RefSeq NM_001291723.1:c.-90-12124T>G
NM_001291712.1:c.-91+2334T>G
Ensemble ENST00000358599.9:c.-90-12124T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.582
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601663 OMIM
HGNC 3468 HGNC
Ensembl ENSG00000140009 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51070550 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-10-16 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 ovarian carcinoma Unconditional logistic regression was used to test associations of rs1271572, rs... BeFree 18704709 Detail
0.008 Malignant neoplasm of ovary Unconditional logistic regression was used to test associations of rs1271572, rs... BeFree 18704709 Detail
0.087 obesity The relationship of three polymorphisms (rs1271572, rs1256049 and rs4986938) and... BeFree 19111408 Detail
0.005 Epithelial ovarian cancer Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma ris... BeFree 21673961 Detail
0.003 ovarian carcinoma Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma ris... BeFree 21673961 Detail
0.008 Malignant neoplasm of ovary Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma ris... BeFree 21673961 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001291712.2(ESR2):c.-91+2334T>G AND not provided ClinVar Detail
Unconditional logistic regression was used to test associations of rs1271572, rs1256030, rs1256031, ... DisGeNET Detail
Unconditional logistic regression was used to test associations of rs1271572, rs1256030, rs1256031, ... DisGeNET Detail
The relationship of three polymorphisms (rs1271572, rs1256049 and rs4986938) and their associated ha... DisGeNET Detail
Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk: pooled analysis w... DisGeNET Detail
Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk: pooled analysis w... DisGeNET Detail
Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk: pooled analysis w... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1271572 dbSNP
Genome
hg38
Position
chr14:64,295,199-64,295,199
Variant Type
snv
Reference Allele
A
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))
rs1271572
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.582
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9754
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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