chr1:45340381:G>T Detail (hg38) (MUTYH, TOE1)

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

Genome

Assembly	Position
hg19	chr1:45,806,053-45,806,053 View the variant detail on this assembly version.
hg38	chr1:45,340,381-45,340,381

HGVS

MUTYH
TOE1

Type	Transcript	Protein
RefSeq	NM_001048171.1:c.-127C>A
	NM_001293190.1:c.-127C>A
	NM_001293192.1:c.-127C>A
	NM_012222.2:c.-127C>A
Ensemble	ENST00000372098.7:c.-127C>A
	ENST00000372110.7:c.-127C>A
	ENST00000372115.7:c.-127C>A
	ENST00000529892.6:c.-127C>A
	ENST00000529984.5:c.-169C>A
	ENST00000672818.3:c.-127C>A
	ENST00000710952.2:c.-127C>A

Type	Transcript	Protein
RefSeq	NM_025077.3:c.52+77G>T
Ensemble	ENST00000372090.6:c.52+77G>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

MUTYH
TOE1

Type	Database	ID	Link
Gene	MIM	604933	OMIM
	HGNC	7527	HGNC
	Ensembl	ENSG00000132781	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM	613931	OMIM
	HGNC	15954	HGNC
	Ensembl	ENSG00000132773	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
0.003	meningioma	Significantly increased meningioma risk was also observed for the minor allele v...	BeFree	20150366	Detail
<0.001	Meningioma, benign, no ICD-O subtype	Significantly increased meningioma risk was also observed for the minor allele v...	BeFree	20150366	Detail
0.003	meningioma	Significantly increased meningioma risk was also observed for the minor allele v...	BeFree	20150366	Detail
0.003	meningioma	Significantly increased meningioma risk was also observed for the minor allele v...	BeFree	20150366	Detail
<0.001	Meningioma, benign, no ICD-O subtype	Significantly increased meningioma risk was also observed for the minor allele v...	BeFree	20150366	Detail
<0.001	Meningioma, benign, no ICD-O subtype	Significantly increased meningioma risk was also observed for the minor allele v...	BeFree	20150366	Detail
<0.001	melanoma	We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, X...	BeFree	22687647	Detail

Annotation

Annotations

Descrption	Source	Links
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1...	DisGeNET	Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1...	DisGeNET	Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1...	DisGeNET	Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1...	DisGeNET	Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1...	DisGeNET	Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1...	DisGeNET	Detail
We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs2548...	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: rs3219466 dbSNP
Genome: hg38
Position: chr1:45,340,381-45,340,381
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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