chr5:112176781:TGAA> 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	chr5:112,176,781-112,176,784
hg38	chr5:112,841,084-112,841,087

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.5490_5493delTGAA	NP_000029.2:p.Asn1830LysfsTer32
	NM_001127511.2:c.5436_5439delTGAA	NP_001120983.2:p.Asn1812LysfsTer32
	NM_001127510.2:c.5490_5493delTGAA	NP_001120982.1:p.Asn1830LysfsTer32
Ensemble	ENST00000257430.9:c.5490_5493delTGAA	ENST00000257430.9:p.Asn1830LysfsTer32
	ENST00000504915.3:c.5544_5547delTGAA	ENST00000504915.3:p.Asn1848LysfsTer32
	ENST00000507379.6:c.5436_5439delTGAA	ENST00000507379.6:p.Asn1812LysfsTer32
	ENST00000508376.6:c.5490_5493delTGAA	ENST00000508376.6:p.Asn1830LysfsTer32
	ENST00000509732.6:c.5490_5493delTGAA	ENST00000509732.6:p.Asn1830LysfsTer32
	ENST00000512211.7:c.5490_5493delTGAA	ENST00000512211.7:p.Asn1830LysfsTer32
	ENST00000713638.1:c.3472_3475delTGAA
	ENST00000713639.1:c.5172_5175delTGAA	ENST00000713639.1:p.Asn1724LysfsTer32

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	2023-11-20	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-05-12	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	2023-04-25	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2019-01-01	criteria provided, single submitter	colorectal cancer	unknown	Detail
Pathogenic	2023-10-08	criteria provided, single submitter	familial adenomatous polyposis 1	germline	Detail
Pathogenic	2023-07-19	criteria provided, single submitter	Classic or attenuated familial adenomatous polyposis	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.5490_5493del (p.Asn1830fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs) AND Colorectal cancer	ClinVar	Detail
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs) AND Classic or attenuated familial adenomatous polypos...	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: rs730881273 dbSNP
Genome: hg19
Position: chr5:112,176,781-112,176,784
Variant Type: snv
Reference Allele: TGAA
Alternative Allele: -

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