chr14:64693871:G>C Detail (hg19) (ESR2)

Information

Genome

Assembly Position
hg19 chr14:64,693,871-64,693,871
hg38 chr14:64,227,153-64,227,153 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001291712.1:c.*380C>G
NM_001040275.1:c.*380C>G
Ensemble ENST00000554572.5:c.*380C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.425
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 601663 OMIM
HGNC 3468 HGNC
Ensembl ENSG00000140009 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51068443 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
0.002 endometrial carcinoma Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998... BeFree 19438492 Detail
0.002 Malignant neoplasm of endometrium Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998... BeFree 19438492 Detail
0.002 uterine corpus cancer Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998... BeFree 19438492 Detail
Annotation

Annotations

DescrptionSourceLinks
Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998 and rs944050) polym... DisGeNET Detail
Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998 and rs944050) polym... DisGeNET Detail
Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998 and rs944050) polym... 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
rs1255998 dbSNP
Genome
hg19
Position
chr14:64,693,871-64,693,871
Variant Type
snv
Reference Allele
G
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))
rs1255998
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.425
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7123
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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