chr5:112177664:TCTA> 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	chr5:112,177,664-112,177,667
hg38	chr5:112,841,967-112,841,970

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.6373_6376delTCTA	NP_000029.2:p.Ser2125AspfsTer13
	NM_001127511.2:c.6319_6322delTCTA	NP_001120983.2:p.Ser2107AspfsTer13
	NM_001127510.2:c.6373_6376delTCTA	NP_001120982.1:p.Ser2125AspfsTer13
Ensemble	ENST00000257430.9:c.6373_6376delTCTA	ENST00000257430.9:p.Ser2125AspfsTer13
	ENST00000504915.3:c.6427_6430delTCTA	ENST00000504915.3:p.Ser2143AspfsTer13
	ENST00000507379.6:c.6319_6322delTCTA	ENST00000507379.6:p.Ser2107AspfsTer13
	ENST00000508376.6:c.6373_6376delTCTA	ENST00000508376.6:p.Ser2125AspfsTer13
	ENST00000509732.6:c.6373_6376delTCTA	ENST00000509732.6:p.Ser2125AspfsTer13
	ENST00000512211.7:c.6373_6376delTCTA	ENST00000512211.7:p.Ser2125AspfsTer13
	ENST00000713638.1:c.4355_4358delTCTA
	ENST00000713639.1:c.6055_6058delTCTA	ENST00000713639.1:p.Ser2019AspfsTer13

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-05-09	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.6373_6376del (p.Ser2125fs) AND Hereditary cancer-predisposing syndrome	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: rs587782505 dbSNP
Genome: hg19
Position: chr5:112,177,664-112,177,667
Variant Type: snv
Reference Allele: TCTA
Alternative Allele: -

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