chr14:64280452:A>G Detail (hg38) (ESR2)

Information

Genome

Assembly Position
hg19 chr14:64,747,170-64,747,170 View the variant detail on this assembly version.
hg38 chr14:64,280,452-64,280,452

HGVS

Type Transcript Protein
RefSeq NM_001271877.1:c.363-299T>C
NM_001437.2:c.363-299T>C
NM_001040275.1:c.363-299T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.587
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 tgv51070155 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-07-09 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Mammographic Density [We examined the association between mammographic density and single-nucleotide ... GAD 19630952 Detail
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
Annotation

Annotations

DescrptionSourceLinks
NM_001437.3(ESR2):c.363-299T>C AND not provided ClinVar Detail
[We examined the association between mammographic density and single-nucleotide polymorphisms (SNPs)... DisGeNET 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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1256030 dbSNP
Genome
hg38
Position
chr14:64,280,452-64,280,452
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs1256030
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5872
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9841
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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