chr1:45331660:C>T 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	chr1:45,797,332-45,797,332 View the variant detail on this assembly version.
hg38	chr1:45,331,660-45,331,660

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.1102+1G>A
	NM_001048173.1:c.1102+1G>A
	NM_001293196.1:c.1102+1G>A
	NM_001293195.1:c.1102+1G>A
	NM_001048171.1:c.1144+1G>A
	NM_001293190.1:c.1144+1G>A
	NM_001293192.1:c.1144+1G>A
	NM_012222.2:c.1144+1G>A
	NM_001048174.1:c.1102+1G>A
	NM_001293191.1:c.1102+1G>A
Ensemble	ENST00000354383.10:c.1105+1G>A
	ENST00000355498.6:c.1102+1G>A
	ENST00000372098.7:c.1177+1G>A
	ENST00000372104.5:c.1102+1G>A
	ENST00000372110.7:c.1147+1G>A
	ENST00000372115.7:c.1144+1G>A
	ENST00000412971.6:c.718+1G>A
	ENST00000448481.5:c.1135+1G>A
	ENST00000456914.7:c.1102+1G>A
	ENST00000483127.2:c.1120+1G>A
	ENST00000488731.6:c.188-104G>A
	ENST00000528013.6:c.1144+1G>A
	ENST00000529892.6:c.956-104G>A
	ENST00000529984.5:c.188-104G>A
	ENST00000531105.5:c.116-2223G>A
	ENST00000672314.2:c.1102+1G>A
	ENST00000672818.3:c.1177+1G>A
	ENST00000710952.2:c.1186+1G>A
	ENST00000713750.1:c.1102+1G>A
	ENST00000713751.1:c.1123+1G>A

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 Likely pathogenic	2023-08-28	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2024-01-11	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 2	germline	Detail
Likely pathogenic	2023-08-15	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Likely pathogenic	2023-01-27	criteria provided, single submitter	MUTYH-related disorder	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.1102+1G>A AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.1102+1G>A AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.1102+1G>A AND not provided	ClinVar	Detail
NM_001048174.2(MUTYH):c.1102+1G>A AND MUTYH-related disorder	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs587781337 dbSNP
Genome: hg38
Position: chr1:45,331,660-45,331,660
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8592
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): 119640
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): 8.358408559010364E-6

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