chr5:112841977:C> 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	chr5:112,177,674-112,177,674
hg38	chr5:112,841,977-112,841,977

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.6383delC	NP_000029.2:p.Ala2128ValfsTer11
	NM_001127511.2:c.6329delC	NP_001120983.2:p.Ala2110ValfsTer11
	NM_001127510.2:c.6383delC	NP_001120982.1:p.Ala2128ValfsTer11
Ensemble	ENST00000257430.9:c.6383delC	ENST00000257430.9:p.Ala2128ValfsTer11
	ENST00000504915.3:c.6437delC	ENST00000504915.3:p.Ala2146ValfsTer11
	ENST00000507379.6:c.6329delC	ENST00000507379.6:p.Ala2110ValfsTer11
	ENST00000508376.6:c.6383delC	ENST00000508376.6:p.Ala2128ValfsTer11
	ENST00000509732.6:c.6383delC	ENST00000509732.6:p.Ala2128ValfsTer11
	ENST00000512211.7:c.6383delC	ENST00000512211.7:p.Ala2128ValfsTer11
	ENST00000713638.1:c.*4365delC
	ENST00000713639.1:c.6065delC	ENST00000713639.1:p.Ala2022ValfsTer11

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	2021-06-18	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-05-15	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	2023-12-18	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.6383del (p.Ala2128fs) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.6383del (p.Ala2128fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.6383del (p.Ala2128fs) AND Classic or attenuated familial adenomatous polyposis	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: rs587779803 dbSNP
Genome: hg38
Position: chr5:112,841,977-112,841,977
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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