chr5:112818969:GA> 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	chr5:112,154,666-112,154,667
hg38	chr5:112,818,969-112,818,970

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.937_938delGA	NP_000029.2:p.Glu313AsnfsTer13
	NM_001127511.2:c.883_884delGA	NP_001120983.2:p.Glu295AsnfsTer13
	NM_001127510.2:c.937_938delGA	NP_001120982.1:p.Glu313AsnfsTer13
Ensemble	ENST00000257430.9:c.937_938delGA	ENST00000257430.9:p.Glu313AsnfsTer13
	ENST00000504915.3:c.937_938delGA	ENST00000504915.3:p.Glu313AsnfsTer13
	ENST00000507379.6:c.883_884delGA	ENST00000507379.6:p.Glu295AsnfsTer13
	ENST00000508376.6:c.937_938delGA	ENST00000508376.6:p.Glu313AsnfsTer13
	ENST00000509732.6:c.937_938delGA	ENST00000509732.6:p.Glu313AsnfsTer13
	ENST00000512211.7:c.937_938delGA	ENST00000512211.7:p.Glu313AsnfsTer13
	ENST00000713638.1:c.937_938delGA	ENST00000713638.1:p.Glu313AsnfsTer13
	ENST00000713639.1:c.757-138_757-137delGA

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	1999-01-01	criteria provided, single submitter	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	2016-09-14	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2016-11-01	criteria provided, single submitter	Familial multiple polyposis syndrome	germline	Detail
Pathogenic	2020-02-24	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-04-28	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline 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.937_938del (p.Glu313fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.937_938del (p.Glu313fs) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.937_938del (p.Glu313fs) AND Familial multiple polyposis syndrome	ClinVar	Detail
NM_000038.6(APC):c.937_938del (p.Glu313fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.937_938del (p.Glu313fs) 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: rs387906239 dbSNP
Genome: hg38
Position: chr5:112,818,969-112,818,970
Variant Type: snv
Reference Allele: GA
Alternative Allele: -

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