chr5:112154829:CT> 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	chr5:112,154,829-112,154,830
hg38	chr5:112,819,132-112,819,133

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.1100_1101delCT	NP_000029.2:p.Ser367CysfsTer10
	NM_001127511.2:c.1046_1047delCT	NP_001120983.2:p.Ser349CysfsTer10
	NM_001127510.2:c.1100_1101delCT	NP_001120982.1:p.Ser367CysfsTer10
Ensemble	ENST00000257430.9:c.1100_1101delCT	ENST00000257430.9:p.Ser367CysfsTer10
	ENST00000504915.3:c.1100_1101delCT	ENST00000504915.3:p.Ser367CysfsTer10
	ENST00000507379.6:c.1046_1047delCT	ENST00000507379.6:p.Ser349CysfsTer10
	ENST00000508376.6:c.1100_1101delCT	ENST00000508376.6:p.Ser367CysfsTer10
	ENST00000509732.6:c.1100_1101delCT	ENST00000509732.6:p.Ser367CysfsTer10
	ENST00000512211.7:c.1100_1101delCT	ENST00000512211.7:p.Ser367CysfsTer10
	ENST00000713638.1:c.1100_1101delCT	ENST00000713638.1:p.Ser367CysfsTer10
	ENST00000713639.1:c.782_783delCT	ENST00000713639.1:p.Ser261CysfsTer10

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

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	COSM6914088	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2021/07/26	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2021/07/26	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2021/07/26	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Polyposis, Adenomatous Intestinal	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs387906237 dbSNP
Genome: hg19
Position: chr5:112,154,829-112,154,830
Variant Type: snv
Reference Allele: CT
Alternative Allele: -

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