chr1:45329405:GC>CT Detail (hg38) (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	chr1:45,795,077-45,795,078 View the variant detail on this assembly version.
hg38	chr1:45,329,405-45,329,406

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.1466_1467delinsAG	NP_001041637.1:p.Cys489Ter
	NM_001048173.1:c.1466_1467delinsAG	NP_001041638.1:p.Cys489Ter
	NM_001293196.1:c.1466_1467delinsAG	NP_001280125.1:p.Cys489Ter
	NM_001293195.1:c.1466_1467delinsAG	NP_001280124.1:p.Cys489Ter
	NM_001048171.1:c.1508_1509delinsAG	NP_001041636.1:p.Cys503Ter
	NM_001293190.1:c.1508_1509delinsAG	NP_001280119.1:p.Cys503Ter
	NM_001293192.1:c.1508_1509delinsAG	NP_001280121.1:p.Cys503Ter
	NM_012222.2:c.1508_1509delinsAG	NP_036354.1:p.Cys503Ter
	NM_001048174.1:c.1466_1467delinsAG	NP_001041639.1:p.Cys489Ter
	NM_001293191.1:c.1466_1467delinsAG	NP_001280120.1:p.Cys489Ter
Ensemble	ENST00000354383.10:c.1469_1470delinsAG	ENST00000354383.10:p.Cys490Ter
	ENST00000355498.6:c.1466_1467delinsAG	ENST00000355498.6:p.Cys489Ter
	ENST00000372098.7:c.1541_1542delinsAG	ENST00000372098.7:p.Cys514Ter
	ENST00000372104.5:c.1466_1467delinsAG	ENST00000372104.5:p.Cys489Ter
	ENST00000372110.7:c.1511_1512delinsAG	ENST00000372110.7:p.Cys504Ter
	ENST00000372115.7:c.1508_1509delinsAG	ENST00000372115.7:p.Cys503Ter
	ENST00000412971.6:c.1082_1083delinsAG	ENST00000412971.6:p.Cys361Ter
	ENST00000448481.5:c.1499_1500delinsAG	ENST00000448481.5:p.Cys500Ter
	ENST00000456914.7:c.1466_1467delinsAG	ENST00000456914.7:p.Cys489Ter
	ENST00000483127.2:c.1484_1485delinsAG	ENST00000483127.2:p.Cys495Ter
	ENST00000488731.6:c.551_552delinsAG	ENST00000488731.6:p.Cys184Ter
	ENST00000528013.6:c.1508_1509delinsAG	ENST00000528013.6:p.Cys503Ter
	ENST00000529892.6:c.1319_1320delinsAG	ENST00000529892.6:p.Cys440Ter
	ENST00000529984.5:c.551_552delinsAG	ENST00000529984.5:p.Cys184Ter
	ENST00000531105.5:c.147_148delinsAG	ENST00000531105.5:p.Gln50Glu
	ENST00000672314.2:c.1466_1467delinsAG	ENST00000672314.2:p.Cys489Ter
	ENST00000672818.3:c.1541_1542delinsAG	ENST00000672818.3:p.Cys514Ter
	ENST00000710952.2:c.1550_1551delinsAG	ENST00000710952.2:p.Cys517Ter
	ENST00000713750.1:c.1466_1467delinsAG	ENST00000713750.1:p.Cys489Ter
	ENST00000713751.1:c.1487_1488delinsAG	ENST00000713751.1:p.Cys496Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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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
Uncertain significance	2023-09-11	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2023-03-27	criteria provided, conflicting interpretations	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

Annotation

Annotations

Descrption	Source	Links
NM_001048174.2(MUTYH):c.1466_1467delinsAG (p.Cys489Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.1466_1467delinsAG (p.Cys489Ter) 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: rs587782716 dbSNP
Genome: hg38
Position: chr1:45,329,405-45,329,406
Variant Type: snv
Reference Allele: GC
Alternative Allele: CT

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