chr5:112173429:C>G 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	chr5:112,173,429-112,173,429
hg38	chr5:112,837,732-112,837,732 View the variant detail on this assembly version.

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.2138C>G	NP_000029.2:p.Ser713Ter
	NM_001127511.2:c.2084C>G	NP_001120983.2:p.Ser695Ter
	NM_001127510.2:c.2138C>G	NP_001120982.1:p.Ser713Ter
Ensemble	ENST00000713638.1:c.*120C>G
	ENST00000257430.9:c.2138C>G	ENST00000257430.9:p.Ser713Ter
	ENST00000504915.3:c.2192C>G	ENST00000504915.3:p.Ser731Ter
	ENST00000507379.6:c.2084C>G	ENST00000507379.6:p.Ser695Ter
	ENST00000508376.6:c.2138C>G	ENST00000508376.6:p.Ser713Ter
	ENST00000509732.6:c.2138C>G	ENST00000509732.6:p.Ser713Ter
	ENST00000512211.7:c.2138C>G	ENST00000512211.7:p.Ser713Ter
	ENST00000713639.1:c.1820C>G	ENST00000713639.1:p.Ser607Ter

Summary

MGeND

Clinical significance
Variant entry
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	COSM287732	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1991-08-09	no assertion criteria provided	Gardner syndrome	germline	Detail
Pathogenic	2018-07-17	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-05-04	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.245	Gardner syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.2138C>G (p.Ser713Ter) AND Gardner syndrome	ClinVar	Detail
NM_000038.6(APC):c.2138C>G (p.Ser713Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.2138C>G (p.Ser713Ter) AND Familial adenomatous polyposis 1	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: rs137854570 dbSNP
Genome: hg19
Position: chr5:112,173,429-112,173,429
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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