chr5:112174379:A>T 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	chr5:112,174,379-112,174,379
hg38	chr5:112,838,682-112,838,682 View the variant detail on this assembly version.

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.3088A>T	NP_000029.2:p.Lys1030Ter
	NM_001127510.2:c.3088A>T	NP_001120982.1:p.Lys1030Ter
	NM_001127511.2:c.3034A>T	NP_001120983.2:p.Lys1012Ter
Ensemble	ENST00000257430.9:c.3088A>T	ENST00000257430.9:p.Lys1030Ter
	ENST00000504915.3:c.3142A>T	ENST00000504915.3:p.Lys1048Ter
	ENST00000508376.6:c.3088A>T	ENST00000508376.6:p.Lys1030Ter
	ENST00000512211.7:c.3088A>T	ENST00000512211.7:p.Lys1030Ter
	ENST00000507379.6:c.3034A>T	ENST00000507379.6:p.Lys1012Ter
	ENST00000509732.6:c.3088A>T	ENST00000509732.6:p.Lys1030Ter
	ENST00000713638.1:c.*1070A>T
	ENST00000713639.1:c.2770A>T	ENST00000713639.1:p.Lys924Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	3
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	COSM1245175	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2020/04/20	descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-07-17	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2019-11-08	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.3088A>T (p.Lys1030Ter) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.3088A>T (p.Lys1030Ter) 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: rs587779786 dbSNP
Genome: hg19
Position: chr5:112,174,379-112,174,379
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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