chr3:41224607:A>C 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	chr3:41,266,098-41,266,098 View the variant detail on this assembly version.
hg38	chr3:41,224,607-41,224,607

HGVS

CTNNB1

Type	Transcript	Protein
RefSeq	NM_001098209.1:c.95A>C	NP_001091679.1:p.Asp32Ala
	NM_001904.3:c.95A>C	NP_001895.1:p.Asp32Ala
	NM_001098210.1:c.95A>C	NP_001091680.1:p.Asp32Ala
Ensemble	ENST00000405570.6:c.95A>C	ENST00000405570.6:p.Asp32Ala
	ENST00000396185.8:c.95A>C	ENST00000396185.8:p.Asp32Ala
	ENST00000349496.11:c.95A>C	ENST00000349496.11:p.Asp32Ala
	ENST00000396183.7:c.95A>C	ENST00000396183.7:p.Asp32Ala
	ENST00000431914.6:c.95A>C	ENST00000431914.6:p.Asp32Ala
	ENST00000433400.6:c.95A>C	ENST00000433400.6:p.Asp32Ala
	ENST00000441708.2:c.95A>C	ENST00000441708.2:p.Asp32Ala
	ENST00000450969.6:c.95A>C	ENST00000450969.6:p.Asp32Ala
	ENST00000453024.6:c.74A>C	ENST00000453024.6:p.Asp25Ala
	ENST00000642248.1:c.95A>C	ENST00000642248.1:p.Asp32Ala
	ENST00000642315.1:c.95A>C	ENST00000642315.1:p.Asp32Ala
	ENST00000642426.1:c.95A>C	ENST00000642426.1:p.Asp32Ala
	ENST00000642836.1:c.74A>C	ENST00000642836.1:p.Asp25Ala
	ENST00000642886.1:c.95A>C	ENST00000642886.1:p.Asp32Ala
	ENST00000642986.1:c.74A>C	ENST00000642986.1:p.Asp25Ala
	ENST00000642992.1:c.95A>C	ENST00000642992.1:p.Asp32Ala
	ENST00000643031.1:c.95A>C	ENST00000643031.1:p.Asp32Ala
	ENST00000643297.1:c.95A>C	ENST00000643297.1:p.Asp32Ala
	ENST00000643541.1:c.95A>C	ENST00000643541.1:p.Asp32Ala
	ENST00000643977.1:c.95A>C	ENST00000643977.1:p.Asp32Ala
	ENST00000643992.1:c.95A>C	ENST00000643992.1:p.Asp32Ala
	ENST00000644138.1:c.95A>C	ENST00000644138.1:p.Asp32Ala
	ENST00000644524.1:c.74A>C	ENST00000644524.1:p.Asp25Ala
	ENST00000644678.1:c.74A>C	ENST00000644678.1:p.Asp25Ala
	ENST00000644867.1:c.95A>C	ENST00000644867.1:p.Asp32Ala
	ENST00000644873.1:c.95A>C	ENST00000644873.1:p.Asp32Ala
	ENST00000644906.2:c.95A>C	ENST00000644906.2:p.Asp32Ala
	ENST00000645210.1:c.95A>C	ENST00000645210.1:p.Asp32Ala
	ENST00000645276.1:c.95A>C	ENST00000645276.1:p.Asp32Ala
	ENST00000645320.1:c.95A>C	ENST00000645320.1:p.Asp32Ala
	ENST00000645493.1:c.74A>C	ENST00000645493.1:p.Asp25Ala
	ENST00000645900.1:c.74A>C	ENST00000645900.1:p.Asp25Ala
	ENST00000645982.1:c.95A>C	ENST00000645982.1:p.Asp32Ala
	ENST00000646116.1:c.74A>C	ENST00000646116.1:p.Asp25Ala
	ENST00000646174.1:c.74A>C	ENST00000646174.1:p.Asp25Ala
	ENST00000646369.1:c.95A>C	ENST00000646369.1:p.Asp32Ala
	ENST00000646381.1:c.74A>C	ENST00000646381.1:p.Asp25Ala
	ENST00000646725.1:c.95A>C	ENST00000646725.1:p.Asp32Ala
	ENST00000647264.1:c.74A>C	ENST00000647264.1:p.Asp25Ala
	ENST00000647390.1:c.95A>C	ENST00000647390.1:p.Asp32Ala
	ENST00000647413.2:c.95A>C	ENST00000647413.2:p.Asp32Ala
	ENST00000715148.1:c.95A>C	ENST00000715148.1:p.Asp32Ala
	ENST00000715149.1:c.95A>C	ENST00000715149.1:p.Asp32Ala
	ENST00000715151.1:c.95A>C	ENST00000715151.1:p.Asp32Ala

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
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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	COSM5690	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2015-07-14	no assertion criteria provided	melanoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		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	Malignant melanoma of skin	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of uterine cervix	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	prostate adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) AND Melanoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) AND Malignant melanoma of skin	ClinVar	Detail
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) AND Neoplasm of uterine cervix	ClinVar	Detail
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) AND Medulloblastoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) AND Hepatocellular carcinoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) AND Prostate adenocarcinoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) AND Gastric adenocarcinoma	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: rs121913396 dbSNP
Genome: hg38
Position: chr3:41,224,607-41,224,607
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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