chr1:45798508:T>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	chr1:45,798,508-45,798,508
hg38	chr1:45,332,836-45,332,836 View the variant detail on this assembly version.

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.421-2A>C
	NM_001048173.1:c.421-2A>C
	NM_001293196.1:c.421-2A>C
	NM_001293195.1:c.421-2A>C
	NM_001048174.1:c.421-2A>C
	NM_001293191.1:c.421-2A>C
	NM_001048171.1:c.463-2A>C
	NM_001293190.1:c.463-2A>C
	NM_001293192.1:c.463-2A>C
	NM_012222.2:c.463-2A>C
Ensemble	ENST00000529892.6:c.463-2A>C
	ENST00000448481.5:c.454-2A>C
	ENST00000372098.7:c.496-2A>C
	ENST00000672818.3:c.496-2A>C
	ENST00000531105.5:c.115+1555A>C
	ENST00000372110.7:c.466-2A>C
	ENST00000713750.1:c.421-2A>C
	ENST00000710952.2:c.505-2A>C
	ENST00000355498.6:c.421-2A>C
	ENST00000372104.5:c.421-2A>C
	ENST00000528013.6:c.463-2A>C
	ENST00000412971.6:c.37-2A>C
	ENST00000672314.2:c.421-2A>C
	ENST00000483127.2:c.439-2A>C
	ENST00000456914.7:c.421-2A>C
	ENST00000354383.10:c.424-2A>C
	ENST00000529984.5:c.116-2A>C
	ENST00000372115.7:c.463-2A>C
	ENST00000488731.6:c.116-2A>C
	ENST00000713751.1:c.442-2A>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Likely pathogenic	2023-03-06	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2024-01-21	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 2	germline unknown	Detail
Likely pathogenic	2024-02-06	criteria provided, multiple submitters, no conflicts	not provided	germline	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.421-2A>C AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.421-2A>C AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.421-2A>C AND not provided	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs786203161 dbSNP
Genome: hg19
Position: chr1:45,798,508-45,798,508
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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