chr5:112173295:C> Detail (hg19) (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	chr5:112,173,295-112,173,295
hg38	chr5:112,837,598-112,837,598

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.2004delC	NP_000029.2:p.Leu669Ter
	NM_001127511.2:c.1950delC	NP_001120983.2:p.Leu651Ter
	NM_001127510.2:c.2004delC	NP_001120982.1:p.Leu669Ter
Ensemble	ENST00000257430.9:c.2004delC	ENST00000257430.9:p.Leu669Ter
	ENST00000504915.3:c.2058delC	ENST00000504915.3:p.Leu687Ter
	ENST00000507379.6:c.1950delC	ENST00000507379.6:p.Leu651Ter
	ENST00000508376.6:c.2004delC	ENST00000508376.6:p.Leu669Ter
	ENST00000509732.6:c.2004delC	ENST00000509732.6:p.Leu669Ter
	ENST00000512211.7:c.2004delC	ENST00000512211.7:p.Leu669Ter
	ENST00000713638.1:c.1789delC	ENST00000713638.1:p.Ile599SerfsTer2174
	ENST00000713639.1:c.1686delC	ENST00000713639.1:p.Leu563Ter

Summary

MGeND

Clinical significance
Variant entry
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-02-28	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2015-03-10	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-05-03	criteria provided, single submitter	familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2021-11-19	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
0.120	Polyposis, Adenomatous Intestinal	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.2004del (p.His668_Leu669insTer) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.2004del (p.His668_Leu669insTer) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.2004del (p.His668_Leu669insTer) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.2004del (p.His668_Leu669insTer) AND Familial adenomatous polyposis 1	ClinVar	Detail
NA	DisGeNET	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: rs587782303 dbSNP
Genome: hg19
Position: chr5:112,173,295-112,173,295
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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