chr5:112174551:TC> Detail (hg19) (APC)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr5:112,174,551-112,174,552
hg38	chr5:112,838,854-112,838,855

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_001127510.2:c.3260_3261delTC	NP_001120982.1:p.Leu1087GlnfsTer31
	NM_000038.5:c.3260_3261delTC	NP_000029.2:p.Leu1087GlnfsTer31
	NM_001127511.2:c.3206_3207delTC	NP_001120983.2:p.Leu1069GlnfsTer31
Ensemble	ENST00000512211.7:c.3260_3261delTC	ENST00000512211.7:p.Leu1087GlnfsTer31
	ENST00000504915.3:c.3314_3315delTC	ENST00000504915.3:p.Leu1105GlnfsTer31
	ENST00000508376.6:c.3260_3261delTC	ENST00000508376.6:p.Leu1087GlnfsTer31
	ENST00000257430.9:c.3260_3261delTC	ENST00000257430.9:p.Leu1087GlnfsTer31
	ENST00000507379.6:c.3206_3207delTC	ENST00000507379.6:p.Leu1069GlnfsTer31
	ENST00000509732.6:c.3260_3261delTC	ENST00000509732.6:p.Leu1087GlnfsTer31
	ENST00000713638.1:c.1242_1243delTC
	ENST00000713639.1:c.2942_2943delTC	ENST00000713639.1:p.Leu981GlnfsTer31

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

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
not provided		transverse colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-02-22	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-05-08	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline not applicable unknown	Detail
Pathogenic	2023-02-14	criteria provided, single submitter	familial adenomatous polyposis 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.3260_3261del (p.Leu1087fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.3260_3261del (p.Leu1087fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.3260_3261del (p.Leu1087fs) 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: rs587782305 dbSNP
Genome: hg19
Position: chr5:112,174,551-112,174,552
Variant Type: snv
Reference Allele: TC
Alternative Allele: -

Genome browser