chr5:112821952:T> 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	chr5:112,157,649-112,157,649
hg38	chr5:112,821,952-112,821,952

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.1369delT	NP_000029.2:p.Ser457HisfsTer10
	NM_001127511.2:c.1315delT	NP_001120983.2:p.Ser439HisfsTer10
	NM_001127510.2:c.1369delT	NP_001120982.1:p.Ser457HisfsTer10
Ensemble	ENST00000257430.9:c.1369delT	ENST00000257430.9:p.Ser457HisfsTer10
	ENST00000504915.3:c.1369delT	ENST00000504915.3:p.Ser457HisfsTer10
	ENST00000507379.6:c.1315delT	ENST00000507379.6:p.Ser439HisfsTer10
	ENST00000508376.6:c.1369delT	ENST00000508376.6:p.Ser457HisfsTer10
	ENST00000509732.6:c.1369delT	ENST00000509732.6:p.Ser457HisfsTer10
	ENST00000512211.7:c.1369delT	ENST00000512211.7:p.Ser457HisfsTer10
	ENST00000713638.1:c.1369delT	ENST00000713638.1:p.Ser457HisfsTer10
	ENST00000713639.1:c.1051delT	ENST00000713639.1:p.Ser351HisfsTer10

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	1991-08-09	no assertion criteria provided	familial adenomatous polyposis 1	germline	Detail
Pathogenic	2023-05-01	criteria provided, single submitter	familial adenomatous polyposis 1	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.1369del (p.Ser457fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.1369del (p.Ser457fs) 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: rs387906229 dbSNP
Genome: hg38
Position: chr5:112,821,952-112,821,952
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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