chr1:45333315:C> Detail (hg38) (MUTYH)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr1:45,798,987-45,798,987
hg38	chr1:45,333,315-45,333,315

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.274delG	NP_001041637.1:p.Glu92ArgfsTer26
	NM_001048173.1:c.274delG	NP_001041638.1:p.Glu92ArgfsTer26
	NM_001293196.1:c.274delG	NP_001280125.1:p.Glu92ArgfsTer26
	NM_001293195.1:c.274delG	NP_001280124.1:p.Glu92ArgfsTer26
	NM_001048171.1:c.316delG	NP_001041636.1:p.Glu106ArgfsTer26
	NM_001293190.1:c.316delG	NP_001280119.1:p.Glu106ArgfsTer26
	NM_001293192.1:c.316delG	NP_001280121.1:p.Glu106ArgfsTer26
	NM_012222.2:c.316delG	NP_036354.1:p.Glu106ArgfsTer26
	NM_001048174.1:c.274delG	NP_001041639.1:p.Glu92ArgfsTer26
	NM_001293191.1:c.274delG	NP_001280120.1:p.Glu92ArgfsTer26
Ensemble	ENST00000354383.10:c.277delG	ENST00000354383.10:p.Glu93ArgfsTer26
	ENST00000355498.6:c.274delG	ENST00000355498.6:p.Glu92ArgfsTer26
	ENST00000372098.7:c.349delG	ENST00000372098.7:p.Glu117ArgfsTer26
	ENST00000372104.5:c.274delG	ENST00000372104.5:p.Glu92ArgfsTer26
	ENST00000372110.7:c.319delG	ENST00000372110.7:p.Glu107ArgfsTer26
	ENST00000372115.7:c.316delG	ENST00000372115.7:p.Glu106ArgfsTer26
	ENST00000412971.6:c.37-481delG
	ENST00000448481.5:c.307delG	ENST00000448481.5:p.Glu103ArgfsTer26
	ENST00000456914.7:c.274delG	ENST00000456914.7:p.Glu92ArgfsTer26
	ENST00000483127.2:c.292delG	ENST00000483127.2:p.Glu98ArgfsTer26
	ENST00000488731.6:c.116-481delG
	ENST00000528013.6:c.316delG	ENST00000528013.6:p.Glu106ArgfsTer26
	ENST00000529892.6:c.316delG	ENST00000529892.6:p.Glu106ArgfsTer26
	ENST00000529984.5:c.116-481delG
	ENST00000531105.5:c.115+1076delG
	ENST00000672314.2:c.274delG	ENST00000672314.2:p.Glu92ArgfsTer26
	ENST00000672818.3:c.349delG	ENST00000672818.3:p.Glu117ArgfsTer26
	ENST00000710952.2:c.358delG	ENST00000710952.2:p.Glu120ArgfsTer26
	ENST00000713750.1:c.274delG	ENST00000713750.1:p.Glu92ArgfsTer26
	ENST00000713751.1:c.295delG	ENST00000713751.1:p.Glu99ArgfsTer26

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-11-10	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-10-20	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 2	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001048174.2(MUTYH):c.274del (p.Glu92fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.274del (p.Glu92fs) 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: rs786203213 dbSNP
Genome: hg38
Position: chr1:45,333,315-45,333,315
Variant Type: snv
Reference Allele: C
Alternative Allele: -

Genome browser