chr3:41224612:G>C Detail (hg38) (CTNNB1, LOC126806658)

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

Genome

Assembly	Position
hg19	chr3:41,266,103-41,266,103 View the variant detail on this assembly version.
hg38	chr3:41,224,612-41,224,612

HGVS

CTNNB1

Type	Transcript	Protein
RefSeq	NM_001904.3:c.100G>C	NP_001895.1:p.Gly34Arg
	NM_001098210.1:c.100G>C	NP_001091680.1:p.Gly34Arg
	NM_001098209.1:c.100G>C	NP_001091679.1:p.Gly34Arg
Ensemble	ENST00000349496.11:c.100G>C	ENST00000349496.11:p.Gly34Arg
	ENST00000396183.7:c.100G>C	ENST00000396183.7:p.Gly34Arg
	ENST00000396185.8:c.100G>C	ENST00000396185.8:p.Gly34Arg
	ENST00000405570.6:c.100G>C	ENST00000405570.6:p.Gly34Arg
	ENST00000431914.6:c.100G>C	ENST00000431914.6:p.Gly34Arg
	ENST00000433400.6:c.100G>C	ENST00000433400.6:p.Gly34Arg
	ENST00000441708.2:c.100G>C	ENST00000441708.2:p.Gly34Arg
	ENST00000450969.6:c.100G>C	ENST00000450969.6:p.Gly34Arg
	ENST00000453024.6:c.79G>C	ENST00000453024.6:p.Gly27Arg
	ENST00000642248.1:c.100G>C	ENST00000642248.1:p.Gly34Arg
	ENST00000642315.1:c.100G>C	ENST00000642315.1:p.Gly34Arg
	ENST00000642426.1:c.100G>C	ENST00000642426.1:p.Gly34Arg
	ENST00000642836.1:c.79G>C	ENST00000642836.1:p.Gly27Arg
	ENST00000642886.1:c.100G>C	ENST00000642886.1:p.Gly34Arg
	ENST00000642986.1:c.79G>C	ENST00000642986.1:p.Gly27Arg
	ENST00000642992.1:c.100G>C	ENST00000642992.1:p.Gly34Arg
	ENST00000643031.1:c.100G>C	ENST00000643031.1:p.Gly34Arg
	ENST00000643297.1:c.100G>C	ENST00000643297.1:p.Gly34Arg
	ENST00000643541.1:c.100G>C	ENST00000643541.1:p.Gly34Arg
	ENST00000643977.1:c.100G>C	ENST00000643977.1:p.Gly34Arg
	ENST00000643992.1:c.100G>C	ENST00000643992.1:p.Gly34Arg
	ENST00000644138.1:c.100G>C	ENST00000644138.1:p.Gly34Arg
	ENST00000644524.1:c.79G>C	ENST00000644524.1:p.Gly27Arg
	ENST00000644678.1:c.79G>C	ENST00000644678.1:p.Gly27Arg
	ENST00000644867.1:c.100G>C	ENST00000644867.1:p.Gly34Arg
	ENST00000644873.1:c.100G>C	ENST00000644873.1:p.Gly34Arg
	ENST00000644906.2:c.100G>C	ENST00000644906.2:p.Gly34Arg
	ENST00000645210.1:c.100G>C	ENST00000645210.1:p.Gly34Arg
	ENST00000645276.1:c.100G>C	ENST00000645276.1:p.Gly34Arg
	ENST00000645320.1:c.100G>C	ENST00000645320.1:p.Gly34Arg
	ENST00000645493.1:c.79G>C	ENST00000645493.1:p.Gly27Arg
	ENST00000645900.1:c.79G>C	ENST00000645900.1:p.Gly27Arg
	ENST00000645982.1:c.100G>C	ENST00000645982.1:p.Gly34Arg
	ENST00000646116.1:c.79G>C	ENST00000646116.1:p.Gly27Arg
	ENST00000646174.1:c.79G>C	ENST00000646174.1:p.Gly27Arg
	ENST00000646369.1:c.100G>C	ENST00000646369.1:p.Gly34Arg
	ENST00000646381.1:c.79G>C	ENST00000646381.1:p.Gly27Arg
	ENST00000646725.1:c.100G>C	ENST00000646725.1:p.Gly34Arg
	ENST00000647264.1:c.79G>C	ENST00000647264.1:p.Gly27Arg
	ENST00000647390.1:c.100G>C	ENST00000647390.1:p.Gly34Arg
	ENST00000647413.2:c.100G>C	ENST00000647413.2:p.Gly34Arg
	ENST00000715148.1:c.100G>C	ENST00000715148.1:p.Gly34Arg
	ENST00000715149.1:c.100G>C	ENST00000715149.1:p.Gly34Arg
	ENST00000715151.1:c.100G>C	ENST00000715151.1:p.Gly34Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
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	tgv12175822	TogoVar
	COSMIC	COSM5684	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell carcinoma of the head and neck	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	pilomatrixoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant melanoma of skin	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant neoplasm of body of uterus	somatic	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	craniopharyngioma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	medulloblastoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Adrenal cortex carcinoma	somatic	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) AND Gastric adenocarcinoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) AND Hepatocellular carcinoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) AND Pilomatrixoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) AND Malignant melanoma of skin	ClinVar	Detail
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) AND Lung adenocarcinoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) AND Craniopharyngioma	ClinVar	Detail
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) AND Medulloblastoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) AND Adrenal cortex carcinoma	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: rs121913399 dbSNP
Genome: hg38
Position: chr3:41,224,612-41,224,612
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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