chr5:112792446:C>G 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	chr5:112,128,143-112,128,143 View the variant detail on this assembly version.
hg38	chr5:112,792,446-112,792,446

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.646C>G	NP_000029.2:p.Arg216Gly
	NM_001127511.2:c.676-8833C>G
	NM_001127510.2:c.646C>G	NP_001120982.1:p.Arg216Gly
Ensemble	ENST00000257430.9:c.646C>G	ENST00000257430.9:p.Arg216Gly
	ENST00000504915.3:c.646C>G	ENST00000504915.3:p.Arg216Gly
	ENST00000507379.6:c.676-8833C>G
	ENST00000508376.6:c.646C>G	ENST00000508376.6:p.Arg216Gly
	ENST00000509732.6:c.646C>G	ENST00000509732.6:p.Arg216Gly
	ENST00000512211.7:c.646C>G	ENST00000512211.7:p.Arg216Gly
	ENST00000713638.1:c.646C>G	ENST00000713638.1:p.Arg216Gly
	ENST00000713639.1:c.469C>G	ENST00000713639.1:p.Arg157Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2019-02-16	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2018-12-15	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

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.646C>G (p.Arg216Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.646C>G (p.Arg216Gly) 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: rs62619935 dbSNP
Genome: hg38
Position: chr5:112,792,446-112,792,446
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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