chr3:41224069:A>G Detail (hg38) (CTNNB1)

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

Genome

Assembly	Position
hg19	chr3:41,265,560-41,265,560 View the variant detail on this assembly version.
hg38	chr3:41,224,069-41,224,069

HGVS

CTNNB1

Type	Transcript	Protein
RefSeq	NM_001904.3:c.1A>G	NP_001895.1:p.?
	NM_001098210.1:c.1A>G	NP_001091680.1:p.?
	NM_001098209.1:c.1A>G	NP_001091679.1:p.?
Ensemble	ENST00000349496.11:c.1A>G	ENST00000349496.11:p.?
	ENST00000396183.7:c.1A>G	ENST00000396183.7:p.?
	ENST00000396185.8:c.1A>G	ENST00000396185.8:p.?
	ENST00000405570.6:c.1A>G	ENST00000405570.6:p.?
	ENST00000431914.6:c.1A>G	ENST00000431914.6:p.?
	ENST00000433400.6:c.1A>G	ENST00000433400.6:p.?
	ENST00000441708.2:c.1A>G	ENST00000441708.2:p.?
	ENST00000450969.6:c.1A>G	ENST00000450969.6:p.?
	ENST00000453024.6:c.-153A>G
	ENST00000642248.1:c.1A>G	ENST00000642248.1:p.?
	ENST00000642315.1:c.1A>G	ENST00000642315.1:p.?
	ENST00000642426.1:c.1A>G	ENST00000642426.1:p.?
	ENST00000642836.1:c.-153A>G
	ENST00000642886.1:c.1A>G	ENST00000642886.1:p.?
	ENST00000642986.1:c.-153A>G
	ENST00000642992.1:c.1A>G	ENST00000642992.1:p.?
	ENST00000643031.1:c.1A>G	ENST00000643031.1:p.?
	ENST00000643297.1:c.1A>G	ENST00000643297.1:p.?
	ENST00000643541.1:c.1A>G	ENST00000643541.1:p.?
	ENST00000643977.1:c.1A>G	ENST00000643977.1:p.?
	ENST00000643992.1:c.1A>G	ENST00000643992.1:p.?
	ENST00000644138.1:c.1A>G	ENST00000644138.1:p.?
	ENST00000644524.1:c.-153A>G
	ENST00000644678.1:c.-153A>G
	ENST00000644867.1:c.1A>G	ENST00000644867.1:p.?
	ENST00000644873.1:c.1A>G	ENST00000644873.1:p.?
	ENST00000644906.2:c.1A>G	ENST00000644906.2:p.?
	ENST00000645210.1:c.1A>G	ENST00000645210.1:p.?
	ENST00000645276.1:c.1A>G	ENST00000645276.1:p.?
	ENST00000645320.1:c.1A>G	ENST00000645320.1:p.?
	ENST00000645493.1:c.-153A>G
	ENST00000645900.1:c.-153A>G
	ENST00000645982.1:c.1A>G	ENST00000645982.1:p.?
	ENST00000646116.1:c.-153A>G
	ENST00000646174.1:c.-8-457A>G
	ENST00000646369.1:c.1A>G	ENST00000646369.1:p.?
	ENST00000646381.1:c.-153A>G
	ENST00000646725.1:c.1A>G	ENST00000646725.1:p.?
	ENST00000647264.1:c.-153A>G
	ENST00000647390.1:c.1A>G	ENST00000647390.1:p.?
	ENST00000647413.2:c.1A>G	ENST00000647413.2:p.?
	ENST00000715148.1:c.1A>G	ENST00000715148.1:p.?
	ENST00000715149.1:c.1A>G	ENST00000715149.1:p.?
	ENST00000715151.1:c.1A>G	ENST00000715151.1:p.?

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2021-01-15	criteria provided, single submitter	CTNNB1-related syndromic intellectual disability	unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001904.4(CTNNB1):c.1A>G (p.Met1Val) AND CTNNB1-related syndromic intellectual disability	ClinVar	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: rs956534023 dbSNP
Genome: hg38
Position: chr3:41,224,069-41,224,069
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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