chr3:41224633:A>C Detail (hg38) (CTNNB1)

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

Information

Genome

Assembly	Position
hg19	chr3:41,266,124-41,266,124 View the variant detail on this assembly version.
hg38	chr3:41,224,633-41,224,633

HGVS

CTNNB1

Type	Transcript	Protein
RefSeq	NM_001904.3:c.121A>C	NP_001895.1:p.Thr41Pro
	NM_001098210.1:c.121A>C	NP_001091680.1:p.Thr41Pro
	NM_001098209.1:c.121A>C	NP_001091679.1:p.Thr41Pro
Ensemble	ENST00000349496.11:c.121A>C	ENST00000349496.11:p.Thr41Pro
	ENST00000396183.7:c.121A>C	ENST00000396183.7:p.Thr41Pro
	ENST00000396185.8:c.121A>C	ENST00000396185.8:p.Thr41Pro
	ENST00000405570.6:c.121A>C	ENST00000405570.6:p.Thr41Pro
	ENST00000431914.6:c.121A>C	ENST00000431914.6:p.Thr41Pro
	ENST00000433400.6:c.121A>C	ENST00000433400.6:p.Thr41Pro
	ENST00000441708.2:c.121A>C	ENST00000441708.2:p.Thr41Pro
	ENST00000645276.1:c.121A>C	ENST00000645276.1:p.Thr41Pro
	ENST00000645320.1:c.121A>C	ENST00000645320.1:p.Thr41Pro
	ENST00000645493.1:c.100A>C	ENST00000645493.1:p.Thr34Pro
	ENST00000645900.1:c.100A>C	ENST00000645900.1:p.Thr34Pro
	ENST00000450969.6:c.121A>C	ENST00000450969.6:p.Thr41Pro
	ENST00000453024.6:c.100A>C	ENST00000453024.6:p.Thr34Pro
	ENST00000642248.1:c.121A>C	ENST00000642248.1:p.Thr41Pro
	ENST00000642315.1:c.121A>C	ENST00000642315.1:p.Thr41Pro
	ENST00000642426.1:c.121A>C	ENST00000642426.1:p.Thr41Pro
	ENST00000642836.1:c.100A>C	ENST00000642836.1:p.Thr34Pro
	ENST00000642886.1:c.121A>C	ENST00000642886.1:p.Thr41Pro
	ENST00000642986.1:c.100A>C	ENST00000642986.1:p.Thr34Pro
	ENST00000642992.1:c.121A>C	ENST00000642992.1:p.Thr41Pro
	ENST00000643031.1:c.121A>C	ENST00000643031.1:p.Thr41Pro
	ENST00000643297.1:c.121A>C	ENST00000643297.1:p.Thr41Pro
	ENST00000643541.1:c.121A>C	ENST00000643541.1:p.Thr41Pro
	ENST00000643977.1:c.121A>C	ENST00000643977.1:p.Thr41Pro
	ENST00000643992.1:c.121A>C	ENST00000643992.1:p.Thr41Pro
	ENST00000644138.1:c.121A>C	ENST00000644138.1:p.Thr41Pro
	ENST00000644524.1:c.100A>C	ENST00000644524.1:p.Thr34Pro
	ENST00000644678.1:c.100A>C	ENST00000644678.1:p.Thr34Pro
	ENST00000644867.1:c.121A>C	ENST00000644867.1:p.Thr41Pro
	ENST00000644873.1:c.121A>C	ENST00000644873.1:p.Thr41Pro
	ENST00000644906.2:c.121A>C	ENST00000644906.2:p.Thr41Pro
	ENST00000645210.1:c.121A>C	ENST00000645210.1:p.Thr41Pro
	ENST00000645982.1:c.121A>C	ENST00000645982.1:p.Thr41Pro
	ENST00000646116.1:c.100A>C	ENST00000646116.1:p.Thr34Pro
	ENST00000646174.1:c.100A>C	ENST00000646174.1:p.Thr34Pro
	ENST00000646369.1:c.121A>C	ENST00000646369.1:p.Thr41Pro
	ENST00000646381.1:c.100A>C	ENST00000646381.1:p.Thr34Pro
	ENST00000646725.1:c.121A>C	ENST00000646725.1:p.Thr41Pro
	ENST00000647264.1:c.100A>C	ENST00000647264.1:p.Thr34Pro
	ENST00000647390.1:c.121A>C	ENST00000647390.1:p.Thr41Pro
	ENST00000647413.2:c.121A>C	ENST00000647413.2:p.Thr41Pro
	ENST00000715148.1:c.121A>C	ENST00000715148.1:p.Thr41Pro
	ENST00000715149.1:c.121A>C	ENST00000715149.1:p.Thr41Pro
	ENST00000715151.1:c.121A>C	ENST00000715151.1:p.Thr41Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

CTNNB1

Type	Database	ID	Link
Gene	MIM	116806	OMIM
	HGNC	2514	HGNC
	Ensembl	ENSG00000168036	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM5688	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.247	hepatoblastoma	NA	CLINVAR		Detail
0.120	Desmoid tumor caused by somatic mutation	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	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: rs121913412 dbSNP
Genome: hg38
Position: chr3:41,224,633-41,224,633
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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