chr5:112841351: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	chr5:112,177,048-112,177,048
hg38	chr5:112,841,351-112,841,351

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.5757delT	NP_000029.2:p.Arg1920GlufsTer50
	NM_001127511.2:c.5703delT	NP_001120983.2:p.Arg1902GlufsTer50
	NM_001127510.2:c.5757delT	NP_001120982.1:p.Arg1920GlufsTer50
Ensemble	ENST00000257430.9:c.5757delT	ENST00000257430.9:p.Arg1920GlufsTer50
	ENST00000504915.3:c.5811delT	ENST00000504915.3:p.Arg1938GlufsTer50
	ENST00000507379.6:c.5703delT	ENST00000507379.6:p.Arg1902GlufsTer50
	ENST00000508376.6:c.5757delT	ENST00000508376.6:p.Arg1920GlufsTer50
	ENST00000509732.6:c.5757delT	ENST00000509732.6:p.Arg1920GlufsTer50
	ENST00000512211.7:c.5757delT	ENST00000512211.7:p.Arg1920GlufsTer50
	ENST00000713638.1:c.*3739delT
	ENST00000713639.1:c.5439delT	ENST00000713639.1:p.Arg1814GlufsTer50

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	2018-02-23	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-05-12	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2023-04-22	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.5757del (p.Arg1920fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.5757del (p.Arg1920fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.5757del (p.Arg1920fs) 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: rs786201134 dbSNP
Genome: hg38
Position: chr5:112,841,351-112,841,351
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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