chr5:112175639:C>G Detail (hg19) (APC)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr5:112,175,639-112,175,639
hg38	chr5:112,839,942-112,839,942 View the variant detail on this assembly version.

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.4348C>G	NP_000029.2:p.Arg1450Gly
	NM_001127511.2:c.4294C>G	NP_001120983.2:p.Arg1432Gly
	NM_001127510.2:c.4348C>G	NP_001120982.1:p.Arg1450Gly
Ensemble	ENST00000257430.9:c.4348C>G	ENST00000257430.9:p.Arg1450Gly
	ENST00000504915.3:c.4402C>G	ENST00000504915.3:p.Arg1468Gly
	ENST00000507379.6:c.4294C>G	ENST00000507379.6:p.Arg1432Gly
	ENST00000508376.6:c.4348C>G	ENST00000508376.6:p.Arg1450Gly
	ENST00000509732.6:c.4348C>G	ENST00000509732.6:p.Arg1450Gly
	ENST00000512211.7:c.4348C>G	ENST00000512211.7:p.Arg1450Gly
	ENST00000713638.1:c.*2330C>G
	ENST00000713639.1:c.4030C>G	ENST00000713639.1:p.Arg1344Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
Uncertain significance	2022-11-29	criteria provided, single submitter	familial adenomatous polyposis 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Polyposis, Adenomatous Intestinal	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.4348C>G (p.Arg1450Gly) AND Familial adenomatous polyposis 1	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: rs121913332 dbSNP
Genome: hg19
Position: chr5:112,175,639-112,175,639
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8638
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121292
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.244566830458728E-6

Genome browser