chr5:112175303:C>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	chr5:112,175,303-112,175,303
hg38	chr5:112,839,606-112,839,606 View the variant detail on this assembly version.

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.4012C>T	NP_000029.2:p.Gln1338Ter
	NM_001127511.2:c.3958C>T	NP_001120983.2:p.Gln1320Ter
	NM_001127510.2:c.4012C>T	NP_001120982.1:p.Gln1338Ter
Ensemble	ENST00000257430.9:c.4012C>T	ENST00000257430.9:p.Gln1338Ter
	ENST00000504915.3:c.4066C>T	ENST00000504915.3:p.Gln1356Ter
	ENST00000507379.6:c.3958C>T	ENST00000507379.6:p.Gln1320Ter
	ENST00000508376.6:c.4012C>T	ENST00000508376.6:p.Gln1338Ter
	ENST00000509732.6:c.4012C>T	ENST00000509732.6:p.Gln1338Ter
	ENST00000512211.7:c.4012C>T	ENST00000512211.7:p.Gln1338Ter
	ENST00000713638.1:c.*1994C>T
	ENST00000713639.1:c.3694C>T	ENST00000713639.1:p.Gln1232Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	5
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	COSM13129	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
Pathogenic	2020/04/20	colon, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	malignant neoplasm of rectum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1991-08-09	no assertion criteria provided	Carcinoma of colon	somatic	Detail
Pathogenic	2023-02-23	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) AND Carcinoma of colon	ClinVar	Detail
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) AND Neoplasm of the large intestine	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: rs121913327 dbSNP
Genome: hg19
Position: chr5:112,175,303-112,175,303
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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