chr5:112841176:CTTT> 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	chr5:112,176,873-112,176,876
hg38	chr5:112,841,176-112,841,179

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.5582_5585delCTTT	NP_000029.2:p.Ser1861Ter
	NM_001127511.2:c.5528_5531delCTTT	NP_001120983.2:p.Ser1843Ter
	NM_001127510.2:c.5582_5585delCTTT	NP_001120982.1:p.Ser1861Ter
Ensemble	ENST00000257430.9:c.5582_5585delCTTT	ENST00000257430.9:p.Ser1861Ter
	ENST00000504915.3:c.5636_5639delCTTT	ENST00000504915.3:p.Ser1879Ter
	ENST00000507379.6:c.5528_5531delCTTT	ENST00000507379.6:p.Ser1843Ter
	ENST00000508376.6:c.5582_5585delCTTT	ENST00000508376.6:p.Ser1861Ter
	ENST00000509732.6:c.5582_5585delCTTT	ENST00000509732.6:p.Ser1861Ter
	ENST00000512211.7:c.5582_5585delCTTT	ENST00000512211.7:p.Ser1861Ter
	ENST00000713638.1:c.3564_3567delCTTT
	ENST00000713639.1:c.5264_5267delCTTT	ENST00000713639.1:p.Ser1755Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	4
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
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2020/06/07	ascending colon	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/06/07	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/06/07	sigmoid colon	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/06/07	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-02-08	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	2017-12-11	criteria provided, single submitter	Familial multiple polyposis syndrome	germline	Detail
Pathogenic	2023-04-17	criteria provided, single submitter	familial adenomatous polyposis 1	germline	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.5582_5585del (p.Asp1860_Ser1861insTer) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.5582_5585del (p.Asp1860_Ser1861insTer) AND Familial multiple polyposis syndrome	ClinVar	Detail
NM_000038.6(APC):c.5582_5585del (p.Asp1860_Ser1861insTer) 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: rs587776520 dbSNP
Genome: hg38
Position: chr5:112,841,176-112,841,179
Variant Type: snv
Reference Allele: CTTT
Alternative Allele: -

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