chr5:112839987:AG> 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	chr5:112,175,684-112,175,685
hg38	chr5:112,839,987-112,839,988

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.4393_4394delAG	NP_000029.2:p.Ser1465TrpfsTer3
	NM_001127511.2:c.4339_4340delAG	NP_001120983.2:p.Ser1447TrpfsTer3
	NM_001127510.2:c.4393_4394delAG	NP_001120982.1:p.Ser1465TrpfsTer3
Ensemble	ENST00000257430.9:c.4393_4394delAG	ENST00000257430.9:p.Ser1465TrpfsTer3
	ENST00000504915.3:c.4447_4448delAG	ENST00000504915.3:p.Ser1483TrpfsTer3
	ENST00000507379.6:c.4339_4340delAG	ENST00000507379.6:p.Ser1447TrpfsTer3
	ENST00000508376.6:c.4393_4394delAG	ENST00000508376.6:p.Ser1465TrpfsTer3
	ENST00000509732.6:c.4393_4394delAG	ENST00000509732.6:p.Ser1465TrpfsTer3
	ENST00000512211.7:c.4393_4394delAG	ENST00000512211.7:p.Ser1465TrpfsTer3
	ENST00000713638.1:c.2375_2376delAG
	ENST00000713639.1:c.4075_4076delAG	ENST00000713639.1:p.Ser1359TrpfsTer3

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	5
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	COSM19332	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2021/10/28	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2021/10/28	malignant neoplasm of rectum	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2021/10/28	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic		colorectal neoplasms, hereditary nonpolyposis	somatic	MGS000043 (TMGS000096)	Kohei Miyazono	Tokyo University

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.245	Gardner syndrome	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: rs387906234 dbSNP
Genome: hg38
Position: chr5:112,839,987-112,839,988
Variant Type: snv
Reference Allele: AG
Alternative Allele: -

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