chr5:112175546:A> 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	chr5:112,175,546-112,175,546
hg38	chr5:112,839,849-112,839,849

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.4255delA	NP_000029.2:p.Ser1419AlafsTer54
	NM_001127511.2:c.4201delA	NP_001120983.2:p.Ser1401AlafsTer54
	NM_001127510.2:c.4255delA	NP_001120982.1:p.Ser1419AlafsTer54
Ensemble	ENST00000257430.9:c.4255delA	ENST00000257430.9:p.Ser1419AlafsTer54
	ENST00000504915.3:c.4309delA	ENST00000504915.3:p.Ser1437AlafsTer54
	ENST00000507379.6:c.4201delA	ENST00000507379.6:p.Ser1401AlafsTer54
	ENST00000508376.6:c.4255delA	ENST00000508376.6:p.Ser1419AlafsTer54
	ENST00000509732.6:c.4255delA	ENST00000509732.6:p.Ser1419AlafsTer54
	ENST00000512211.7:c.4255delA	ENST00000512211.7:p.Ser1419AlafsTer54
	ENST00000713638.1:c.*2237delA
	ENST00000713639.1:c.3937delA	ENST00000713639.1:p.Ser1313AlafsTer54

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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
Likely pathogenic	2011-03-29	criteria provided, single submitter	Familial multiple polyposis syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.777	Adenomatous Polyposis Coli	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.4255del (p.Ser1419fs) AND Familial multiple polyposis syndrome	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: rs727504420 dbSNP
Genome: hg19
Position: chr5:112,175,546-112,175,546
Variant Type: snv
Reference Allele: A
Alternative Allele: -

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