chr5:112840260:A> Detail (hg38) (APC)

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

Genome

Assembly	Position
hg19	chr5:112,175,957-112,175,957
hg38	chr5:112,840,260-112,840,260

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.4666delA	NP_000029.2:p.Thr1556LeufsTer9
	NM_001127511.2:c.4612delA	NP_001120983.2:p.Thr1538LeufsTer9
	NM_001127510.2:c.4666delA	NP_001120982.1:p.Thr1556LeufsTer9
Ensemble	ENST00000257430.9:c.4666delA	ENST00000257430.9:p.Thr1556LeufsTer9
	ENST00000504915.3:c.4720delA	ENST00000504915.3:p.Thr1574LeufsTer9
	ENST00000507379.6:c.4612delA	ENST00000507379.6:p.Thr1538LeufsTer9
	ENST00000508376.6:c.4666delA	ENST00000508376.6:p.Thr1556LeufsTer9
	ENST00000509732.6:c.4666delA	ENST00000509732.6:p.Thr1556LeufsTer9
	ENST00000512211.7:c.4666delA	ENST00000512211.7:p.Thr1556LeufsTer9
	ENST00000713638.1:c.*2648delA
	ENST00000713639.1:c.4348delA	ENST00000713639.1:p.Thr1450LeufsTer9

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

APC

Type	Database	ID	Link
Gene	MIM	611731	OMIM
	HGNC	583	HGNC
	Ensembl	ENSG00000134982	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM18576	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2018/04/26	Low grade dysplasia	somatic	MGS000017 (TMGS000052)	Kohei Miyazono	Tokyo University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-07-24	criteria provided, single submitter	familial adenomatous polyposis 1	germline	Detail
Pathogenic	2023-05-11	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Polyposis, Adenomatous Intestinal	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.4666del (p.Thr1556fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.4666del (p.Thr1556fs) AND Familial adenomatous polyposis 1	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: rs587783031 dbSNP
Genome: hg38
Position: chr5:112,840,260-112,840,260
Variant Type: snv
Reference Allele: A
Alternative Allele: -

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