chr1:45796870:G> Detail (hg19) (MUTYH)

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

Information

Genome

Assembly	Position
hg19	chr1:45,796,870-45,796,870
hg38	chr1:45,331,198-45,331,198

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001293195.1:c.1376delC	NP_001280124.1:p.Thr460ProfsTer3
	NM_001048172.1:c.1376delC	NP_001041637.1:p.Thr460ProfsTer3
	NM_001048173.1:c.1376delC	NP_001041638.1:p.Thr460ProfsTer3
	NM_001293196.1:c.1376delC	NP_001280125.1:p.Thr460ProfsTer3
	NM_001048171.1:c.1418delC	NP_001041636.1:p.Thr474ProfsTer3
	NM_001293190.1:c.1418delC	NP_001280119.1:p.Thr474ProfsTer3
	NM_001293192.1:c.1418delC	NP_001280121.1:p.Thr474ProfsTer3
	NM_012222.2:c.1418delC	NP_036354.1:p.Thr474ProfsTer3
	NM_001048174.1:c.1376delC	NP_001041639.1:p.Thr460ProfsTer3
	NM_001293191.1:c.1376delC	NP_001280120.1:p.Thr460ProfsTer3
Ensemble	ENST00000448481.5:c.1409delC	ENST00000448481.5:p.Thr471ProfsTer3
	ENST00000372098.7:c.1451delC	ENST00000372098.7:p.Thr485ProfsTer3
	ENST00000529892.6:c.1229delC	ENST00000529892.6:p.Thr411ProfsTer3
	ENST00000531105.5:c.116-1761delC
	ENST00000672818.3:c.1451delC	ENST00000672818.3:p.Thr485ProfsTer3
	ENST00000713750.1:c.1376delC	ENST00000713750.1:p.Thr460ProfsTer3
	ENST00000372110.7:c.1421delC	ENST00000372110.7:p.Thr475ProfsTer3
	ENST00000710952.2:c.1460delC	ENST00000710952.2:p.Thr488ProfsTer3
	ENST00000372104.5:c.1376delC	ENST00000372104.5:p.Thr460ProfsTer3
	ENST00000412971.6:c.992delC	ENST00000412971.6:p.Thr332ProfsTer3
	ENST00000528013.6:c.1418delC	ENST00000528013.6:p.Thr474ProfsTer3
	ENST00000355498.6:c.1376delC	ENST00000355498.6:p.Thr460ProfsTer3
	ENST00000529984.5:c.461delC	ENST00000529984.5:p.Thr155ProfsTer3
	ENST00000372115.7:c.1418delC	ENST00000372115.7:p.Thr474ProfsTer3
	ENST00000483127.2:c.1394delC	ENST00000483127.2:p.Thr466ProfsTer3
	ENST00000672314.2:c.1376delC	ENST00000672314.2:p.Thr460ProfsTer3
	ENST00000354383.10:c.1379delC	ENST00000354383.10:p.Thr461ProfsTer3
	ENST00000456914.7:c.1376delC	ENST00000456914.7:p.Thr460ProfsTer3
	ENST00000488731.6:c.461delC	ENST00000488731.6:p.Thr155ProfsTer3
	ENST00000713751.1:c.1397delC	ENST00000713751.1:p.Thr467ProfsTer3

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2003-02-27	no assertion criteria provided	familial adenomatous polyposis 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.480	Colorectal Adenomatous Polyposis, Autosomal Recessive	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001048174.2(MUTYH):c.1377del (p.Thr460fs) AND Familial adenomatous polyposis 2	ClinVar	Detail
NA	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: rs146331482 dbSNP
Genome: hg19
Position: chr1:45,796,870-45,796,870
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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