chr1:45331223:CCT> 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	chr1:45,796,895-45,796,897
hg38	chr1:45,331,223-45,331,225

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.1349_1351delAGG	NP_001041637.1:p.Glu452del
	NM_001048173.1:c.1349_1351delAGG	NP_001041638.1:p.Glu452del
	NM_001293196.1:c.1349_1351delAGG	NP_001280125.1:p.Glu452del
	NM_001293195.1:c.1349_1351delAGG	NP_001280124.1:p.Glu452del
	NM_001048171.1:c.1391_1393delAGG	NP_001041636.1:p.Glu466del
	NM_001293190.1:c.1391_1393delAGG	NP_001280119.1:p.Glu466del
	NM_001293192.1:c.1391_1393delAGG	NP_001280121.1:p.Glu466del
	NM_012222.2:c.1391_1393delAGG	NP_036354.1:p.Glu466del
	NM_001048174.1:c.1349_1351delAGG	NP_001041639.1:p.Glu452del
	NM_001293191.1:c.1349_1351delAGG	NP_001280120.1:p.Glu452del
Ensemble	ENST00000354383.10:c.1352_1354delAGG	ENST00000354383.10:p.Glu453del
	ENST00000355498.6:c.1349_1351delAGG	ENST00000355498.6:p.Glu452del
	ENST00000372098.7:c.1424_1426delAGG	ENST00000372098.7:p.Glu477del
	ENST00000372104.5:c.1349_1351delAGG	ENST00000372104.5:p.Glu452del
	ENST00000372110.7:c.1394_1396delAGG	ENST00000372110.7:p.Glu467del
	ENST00000372115.7:c.1391_1393delAGG	ENST00000372115.7:p.Glu466del
	ENST00000412971.6:c.965_967delAGG	ENST00000412971.6:p.Glu324del
	ENST00000448481.5:c.1382_1384delAGG	ENST00000448481.5:p.Glu463del
	ENST00000456914.7:c.1349_1351delAGG	ENST00000456914.7:p.Glu452del
	ENST00000483127.2:c.1367_1369delAGG	ENST00000483127.2:p.Glu458del
	ENST00000488731.6:c.434_436delAGG	ENST00000488731.6:p.Glu147del
	ENST00000528013.6:c.1391_1393delAGG	ENST00000528013.6:p.Glu466del
	ENST00000529892.6:c.1202_1204delAGG	ENST00000529892.6:p.Glu403del
	ENST00000529984.5:c.434_436delAGG	ENST00000529984.5:p.Glu147del
	ENST00000531105.5:c.116-1788_116-1786delAGG
	ENST00000672314.2:c.1349_1351delAGG	ENST00000672314.2:p.Glu452del
	ENST00000672818.3:c.1424_1426delAGG	ENST00000672818.3:p.Glu477del
	ENST00000710952.2:c.1433_1435delAGG	ENST00000710952.2:p.Glu480del
	ENST00000713750.1:c.1349_1351delAGG	ENST00000713750.1:p.Glu452del
	ENST00000713751.1:c.1370_1372delAGG	ENST00000713751.1:p.Glu459del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.480	Colorectal Adenomatous Polyposis, Autosomal Recessive	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	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: -
Genome: hg38
Position: chr1:45,331,223-45,331,225
Variant Type: snv
Reference Allele: CCT
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121396
Allele Counts in All Race (ExAC): 14
Heterozygous Counts in All Race (ExAC): 12
Homozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 1.1532505189627336E-4

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