chr5:112174893:C>A 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	chr5:112,174,893-112,174,893
hg38	chr5:112,839,196-112,839,196 View the variant detail on this assembly version.

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.3602C>A	NP_000029.2:p.Ser1201Ter
	NM_001127511.2:c.3548C>A	NP_001120983.2:p.Ser1183Ter
	NM_001127510.2:c.3602C>A	NP_001120982.1:p.Ser1201Ter
Ensemble	ENST00000512211.7:c.3602C>A	ENST00000512211.7:p.Ser1201Ter
	ENST00000257430.9:c.3602C>A	ENST00000257430.9:p.Ser1201Ter
	ENST00000504915.3:c.3656C>A	ENST00000504915.3:p.Ser1219Ter
	ENST00000507379.6:c.3548C>A	ENST00000507379.6:p.Ser1183Ter
	ENST00000508376.6:c.3602C>A	ENST00000508376.6:p.Ser1201Ter
	ENST00000509732.6:c.3602C>A	ENST00000509732.6:p.Ser1201Ter
	ENST00000713638.1:c.*1584C>A
	ENST00000713639.1:c.3284C>A	ENST00000713639.1:p.Ser1095Ter

Summary

MGeND

Clinical significance	not provided
Variant entry	1
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	COSM1183190	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		pyloric antrum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic		no assertion criteria provided	not provided	unknown	Detail
Pathogenic	2021-04-14	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.3602C>A (p.Ser1201Ter) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.3602C>A (p.Ser1201Ter) 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: rs730881247 dbSNP
Genome: hg19
Position: chr5:112,174,893-112,174,893
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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