chr6:151807942:T>A Detail (hg38) (ESR1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr6:152,129,077-152,129,077 View the variant detail on this assembly version.
hg38	chr6:151,807,942-151,807,942

HGVS

ESR1

Type	Transcript	Protein
RefSeq	NM_000125.3:c.30T>A	NP_000116.2:p.Ser10=
	NM_001122741.1:c.30T>A	NP_001116213.1:p.Ser10=
	NM_001291230.1:c.30T>A	NP_001278159.1:p.Ser10=
	NM_001291241.1:c.30T>A	NP_001278170.1:p.Ser10=
	NM_001122742.1:c.30T>A	NP_001116214.1:p.Ser10=
	NM_001122740.1:c.30T>A	NP_001116212.1:p.Ser10=
Ensemble	ENST00000206249.8:c.30T>A	ENST00000206249.8:p.Ser10=
	ENST00000338799.9:c.30T>A	ENST00000338799.9:p.Ser10=
	ENST00000406599.5:c.30T>A	ENST00000406599.5:p.Ser10=
	ENST00000440973.5:c.30T>A	ENST00000440973.5:p.Ser10=
	ENST00000443427.5:c.30T>A	ENST00000443427.5:p.Ser10=
	ENST00000456483.3:c.30T>A	ENST00000456483.3:p.Ser10=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

ESR1

Type	Database	ID	Link
Gene	MIM	133430	OMIM
	HGNC	3467	HGNC
	Ensembl	ENSG00000091831	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	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
0.007	prostate carcinoma	The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP...	BeFree	19952760	Detail
0.061	Malignant neoplasm of prostate	The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP...	BeFree	19952760	Detail
0.024	prostate carcinoma	The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP...	BeFree	19952760	Detail
0.051	Malignant neoplasm of prostate	The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP...	BeFree	19952760	Detail

Annotation

Annotations

Descrption	Source	Links
The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP19A1 and rs2077647 i...	DisGeNET	Detail
The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP19A1 and rs2077647 i...	DisGeNET	Detail
The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP19A1 and rs2077647 i...	DisGeNET	Detail
The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP19A1 and rs2077647 i...	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: -
Genome: hg38
Position: chr6:151,807,942-151,807,942
Variant Type: snv
Reference Allele: T
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8538
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 119490
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6737802326554525E-5

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