chr1:45798588:A>G Detail (hg19) (MUTYH)

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

Genome

Assembly	Position
hg19	chr1:45,798,588-45,798,588
hg38	chr1:45,332,916-45,332,916 View the variant detail on this assembly version.

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001293195.1:c.420+2T>C
	NM_001048172.1:c.420+2T>C
	NM_001048173.1:c.420+2T>C
	NM_001293196.1:c.420+2T>C
	NM_001048171.1:c.462+2T>C
	NM_001293190.1:c.462+2T>C
	NM_001293192.1:c.462+2T>C
	NM_012222.2:c.462+2T>C
	NM_001048174.1:c.420+2T>C
	NM_001293191.1:c.420+2T>C
Ensemble	ENST00000488731.6:c.116-82T>C
	ENST00000713751.1:c.441+2T>C
	ENST00000528013.6:c.462+2T>C
	ENST00000412971.6:c.37-82T>C
	ENST00000372104.5:c.420+2T>C
	ENST00000355498.6:c.420+2T>C
	ENST00000372115.7:c.462+2T>C
	ENST00000529984.5:c.116-82T>C
	ENST00000456914.7:c.420+2T>C
	ENST00000354383.10:c.423+2T>C
	ENST00000672314.2:c.420+2T>C
	ENST00000483127.2:c.438+2T>C
	ENST00000713750.1:c.420+2T>C
	ENST00000372110.7:c.465+2T>C
	ENST00000710952.2:c.504+2T>C
	ENST00000372098.7:c.495+2T>C
	ENST00000448481.5:c.453+2T>C
	ENST00000529892.6:c.462+2T>C
	ENST00000531105.5:c.115+1475T>C
	ENST00000672818.3:c.495+2T>C

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	Pathogenic Likely 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	2020-08-03	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2024-01-25	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 2	germline	Detail

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
NM_001048174.2(MUTYH):c.420+2T>C AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.420+2T>C AND Familial adenomatous polyposis 2	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs587782730 dbSNP
Genome: hg19
Position: chr1:45,798,588-45,798,588
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8628
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): 121054
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.260776182530111E-6

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