chr5:112116602:T>G Detail (hg19) (APC)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr5:112,116,602-112,116,602
hg38	chr5:112,780,905-112,780,905 View the variant detail on this assembly version.

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.645+2T>G
	NM_001127511.2:c.675+2T>G
	NM_001127510.2:c.645+2T>G
Ensemble	ENST00000257430.9:c.645+2T>G
	ENST00000504915.3:c.645+2T>G
	ENST00000507379.6:c.675+2T>G
	ENST00000508376.6:c.645+2T>G
	ENST00000509732.6:c.645+2T>G
	ENST00000512211.7:c.645+2T>G
	ENST00000713638.1:c.645+2T>G
	ENST00000713639.1:c.468+2T>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2018-07-23	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	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.645+2T>G AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs786202351 dbSNP
Genome: hg19
Position: chr5:112,116,602-112,116,602
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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