chr3:41224622:C>A Detail (hg38) (CTNNB1, LOC126806658)

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

Information

Genome

Assembly	Position
hg19	chr3:41,266,113-41,266,113 View the variant detail on this assembly version.
hg38	chr3:41,224,622-41,224,622

HGVS

CTNNB1

Type	Transcript	Protein
RefSeq	NM_001904.3:c.110C>A	NP_001895.1:p.Ser37Tyr
	NM_001098210.1:c.110C>A	NP_001091680.1:p.Ser37Tyr
	NM_001098209.1:c.110C>A	NP_001091679.1:p.Ser37Tyr
Ensemble	ENST00000349496.11:c.110C>A	ENST00000349496.11:p.Ser37Tyr
	ENST00000396183.7:c.110C>A	ENST00000396183.7:p.Ser37Tyr
	ENST00000396185.8:c.110C>A	ENST00000396185.8:p.Ser37Tyr
	ENST00000405570.6:c.110C>A	ENST00000405570.6:p.Ser37Tyr
	ENST00000431914.6:c.110C>A	ENST00000431914.6:p.Ser37Tyr
	ENST00000433400.6:c.110C>A	ENST00000433400.6:p.Ser37Tyr
	ENST00000441708.2:c.110C>A	ENST00000441708.2:p.Ser37Tyr
	ENST00000450969.6:c.110C>A	ENST00000450969.6:p.Ser37Tyr
	ENST00000453024.6:c.89C>A	ENST00000453024.6:p.Ser30Tyr
	ENST00000642248.1:c.110C>A	ENST00000642248.1:p.Ser37Tyr
	ENST00000642315.1:c.110C>A	ENST00000642315.1:p.Ser37Tyr
	ENST00000642426.1:c.110C>A	ENST00000642426.1:p.Ser37Tyr
	ENST00000642836.1:c.89C>A	ENST00000642836.1:p.Ser30Tyr
	ENST00000642886.1:c.110C>A	ENST00000642886.1:p.Ser37Tyr
	ENST00000642986.1:c.89C>A	ENST00000642986.1:p.Ser30Tyr
	ENST00000642992.1:c.110C>A	ENST00000642992.1:p.Ser37Tyr
	ENST00000643031.1:c.110C>A	ENST00000643031.1:p.Ser37Tyr
	ENST00000643297.1:c.110C>A	ENST00000643297.1:p.Ser37Tyr
	ENST00000643541.1:c.110C>A	ENST00000643541.1:p.Ser37Tyr
	ENST00000643977.1:c.110C>A	ENST00000643977.1:p.Ser37Tyr
	ENST00000643992.1:c.110C>A	ENST00000643992.1:p.Ser37Tyr
	ENST00000644138.1:c.110C>A	ENST00000644138.1:p.Ser37Tyr
	ENST00000644524.1:c.89C>A	ENST00000644524.1:p.Ser30Tyr
	ENST00000644678.1:c.89C>A	ENST00000644678.1:p.Ser30Tyr
	ENST00000644867.1:c.110C>A	ENST00000644867.1:p.Ser37Tyr
	ENST00000644873.1:c.110C>A	ENST00000644873.1:p.Ser37Tyr
	ENST00000644906.2:c.110C>A	ENST00000644906.2:p.Ser37Tyr
	ENST00000645210.1:c.110C>A	ENST00000645210.1:p.Ser37Tyr
	ENST00000645276.1:c.110C>A	ENST00000645276.1:p.Ser37Tyr
	ENST00000645320.1:c.110C>A	ENST00000645320.1:p.Ser37Tyr
	ENST00000645493.1:c.89C>A	ENST00000645493.1:p.Ser30Tyr
	ENST00000645900.1:c.89C>A	ENST00000645900.1:p.Ser30Tyr
	ENST00000645982.1:c.110C>A	ENST00000645982.1:p.Ser37Tyr
	ENST00000646116.1:c.89C>A	ENST00000646116.1:p.Ser30Tyr
	ENST00000646174.1:c.89C>A	ENST00000646174.1:p.Ser30Tyr
	ENST00000646369.1:c.110C>A	ENST00000646369.1:p.Ser37Tyr
	ENST00000646381.1:c.89C>A	ENST00000646381.1:p.Ser30Tyr
	ENST00000646725.1:c.110C>A	ENST00000646725.1:p.Ser37Tyr
	ENST00000647264.1:c.89C>A	ENST00000647264.1:p.Ser30Tyr
	ENST00000647390.1:c.110C>A	ENST00000647390.1:p.Ser37Tyr
	ENST00000647413.2:c.110C>A	ENST00000647413.2:p.Ser37Tyr
	ENST00000715148.1:c.110C>A	ENST00000715148.1:p.Ser37Tyr
	ENST00000715149.1:c.110C>A	ENST00000715149.1:p.Ser37Tyr
	ENST00000715151.1:c.110C>A	ENST00000715151.1:p.Ser37Tyr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic 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
	COSMIC	COSM5666	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-10-02	no assertion criteria provided	melanoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	medulloblastoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of uterine cervix	somatic	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	Neoplasm of stomach	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant neoplasm of body of uterus	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	prostate adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Carcinoma of esophagus	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.482	pilomatrixoma	NA	CLINVAR		Detail
0.241	ovarian neoplasm	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) AND Melanoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) AND Gastric adenocarcinoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) AND Medulloblastoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) AND Hepatocellular carcinoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) AND Neoplasm of uterine cervix	ClinVar	Detail
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) AND Neoplasm of stomach	ClinVar	Detail
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) AND Lung adenocarcinoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) AND Prostate adenocarcinoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) AND Carcinoma of esophagus	ClinVar	Detail
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: rs121913403 dbSNP
Genome: hg38
Position: chr3:41,224,622-41,224,622
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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