chr1:45333454:A>G Detail (hg38) (MUTYH)

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

Information

Genome

Assembly	Position
hg19	chr1:45,799,126-45,799,126 View the variant detail on this assembly version.
hg38	chr1:45,333,454-45,333,454

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.223T>C	NP_001041637.1:p.Trp75Arg
	NM_001048173.1:c.223T>C	NP_001041638.1:p.Trp75Arg
	NM_001293196.1:c.223T>C	NP_001280125.1:p.Trp75Arg
	NM_001293195.1:c.223T>C	NP_001280124.1:p.Trp75Arg
	NM_001048171.1:c.265T>C	NP_001041636.1:p.Trp89Arg
	NM_001293190.1:c.265T>C	NP_001280119.1:p.Trp89Arg
	NM_001293192.1:c.265T>C	NP_001280121.1:p.Trp89Arg
	NM_012222.2:c.265T>C	NP_036354.1:p.Trp89Arg
	NM_001048174.1:c.223T>C	NP_001041639.1:p.Trp75Arg
	NM_001293191.1:c.223T>C	NP_001280120.1:p.Trp75Arg
Ensemble	ENST00000354383.10:c.226T>C	ENST00000354383.10:p.Trp76Arg
	ENST00000355498.6:c.223T>C	ENST00000355498.6:p.Trp75Arg
	ENST00000372098.7:c.298T>C	ENST00000372098.7:p.Trp100Arg
	ENST00000372104.5:c.223T>C	ENST00000372104.5:p.Trp75Arg
	ENST00000372110.7:c.268T>C	ENST00000372110.7:p.Trp90Arg
	ENST00000372115.7:c.265T>C	ENST00000372115.7:p.Trp89Arg
	ENST00000412971.6:c.37-620T>C
	ENST00000448481.5:c.256T>C	ENST00000448481.5:p.Trp86Arg
	ENST00000456914.7:c.223T>C	ENST00000456914.7:p.Trp75Arg
	ENST00000483127.2:c.241T>C	ENST00000483127.2:p.Trp81Arg
	ENST00000488731.6:c.116-620T>C
	ENST00000528013.6:c.265T>C	ENST00000528013.6:p.Trp89Arg
	ENST00000529892.6:c.265T>C	ENST00000529892.6:p.Trp89Arg
	ENST00000529984.5:c.116-620T>C
	ENST00000531105.5:c.115+937T>C
	ENST00000672314.2:c.223T>C	ENST00000672314.2:p.Trp75Arg
	ENST00000672818.3:c.298T>C	ENST00000672818.3:p.Trp100Arg
	ENST00000710952.2:c.307T>C	ENST00000710952.2:p.Trp103Arg
	ENST00000713750.1:c.223T>C	ENST00000713750.1:p.Trp75Arg
	ENST00000713751.1:c.244T>C	ENST00000713751.1:p.Trp82Arg

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

MUTYH

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

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.003	liver carcinoma	Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->...	BeFree	16109524	Detail
<0.001	liver carcinoma	Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->...	BeFree	16109524	Detail

Annotation

Annotations

Descrption	Source	Links
Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphism...	DisGeNET	Detail
Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphism...	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: rs1140507 dbSNP
Genome: hg38
Position: chr1:45,333,454-45,333,454
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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