chr2:47800382:T>C Detail (hg38) (MSH6, FBXO11)

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

Genome

Assembly	Position
hg19	chr2:48,027,521-48,027,521 View the variant detail on this assembly version.
hg38	chr2:47,800,382-47,800,382

HGVS

FBXO11
MSH6

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000405808.5:c.169+7813A>G

Type	Transcript	Protein
RefSeq	NM_000179.2:c.2399T>C	NP_000170.1:p.Val800Ala
	NM_001281492.1:c.2009T>C	NP_001268421.1:p.Val670Ala
Ensemble	ENST00000234420.11:c.2399T>C	ENST00000234420.11:p.Val800Ala
	ENST00000411819.2:c.2102T>C	ENST00000411819.2:p.Val701Ala
	ENST00000420813.6:c.2102T>C	ENST00000420813.6:p.Val701Ala
	ENST00000455383.6:c.2102T>C	ENST00000455383.6:p.Val701Ala
	ENST00000540021.6:c.2009T>C	ENST00000540021.6:p.Val670Ala
	ENST00000652107.1:c.2102T>C	ENST00000652107.1:p.Val701Ala
	ENST00000673637.1:c.2102T>C	ENST00000673637.1:p.Val701Ala
	ENST00000700000.1:c.1606+793T>C
	ENST00000700002.1:c.2405T>C	ENST00000700002.1:p.Val802Ala
	ENST00000700004.2:c.2399T>C	ENST00000700004.2:p.Val800Ala

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

FBXO11
MSH6

Type	Database	ID	Link
Gene	MIM	607871	OMIM
	HGNC	13590	HGNC
	Ensembl	ENSG00000138081	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM	600678	OMIM
	HGNC	7329	HGNC
	Ensembl	ENSG00000116062	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
0.085	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.008	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.015	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.011	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
<0.001	Triple Negative Breast Neoplasms	Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41...	BeFree	25023197	Detail
0.002	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.009	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.019	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.001	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.004	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
<0.001	Triple Negative Breast Neoplasms	Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41...	BeFree	25023197	Detail
0.018	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
<0.001	Triple Negative Breast Neoplasms	Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41...	BeFree	25023197	Detail
0.023	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.013	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
0.002	breast carcinoma	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
<0.001	Triple Negative Breast Neoplasms	Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41...	BeFree	25023197	Detail
0.098	Malignant neoplasm of breast	Using data/samples collected from the first 752 Caucasians and 141 African-Ameri...	BeFree	18701435	Detail
<0.001	Triple Negative Breast Neoplasms	Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41...	BeFree	25023197	Detail
<0.001	Triple Negative Breast Neoplasms	Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41...	BeFree	25023197	Detail

Annotation

Annotations

Descrption	Source	Links
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3...	DisGeNET	Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c...	DisGeNET	Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3...	DisGeNET	Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3...	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: rs63750895 dbSNP
Genome: hg38
Position: chr2:47,800,382-47,800,382
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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