chr3:41224606:G>C Detail (hg38) (CTNNB1, LOC126806658)

Information

Genome

Assembly Position
hg19 chr3:41,266,097-41,266,097 View the variant detail on this assembly version.
hg38 chr3:41,224,606-41,224,606

HGVS

Type Transcript Protein
RefSeq NM_001904.3:c.94G>C NP_001895.1:p.Asp32His
NM_001098210.1:c.94G>C NP_001091680.1:p.Asp32His
NM_001098209.1:c.94G>C NP_001091679.1:p.Asp32His
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
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 COSM5668 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 Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided medulloblastoma 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 somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.482 pilomatrixoma NA CLINVAR Detail
0.247 hepatoblastoma NA CLINVAR Detail
0.482 pilomatrixoma A common human skin tumour is caused by activating mutations in beta-catenin. UNIPROT 10192393 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) AND Medulloblastoma ClinVar Detail
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) AND Neoplasm of uterine cervix ClinVar Detail
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) AND Melanoma ClinVar Detail
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) AND Hepatocellular carcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) AND Gastric adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) AND Prostate adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) AND Malignant melanoma of skin ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
A common human skin tumour is caused by activating mutations in beta-catenin. 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
rs28931588 dbSNP
Genome
hg38
Position
chr3:41,224,606-41,224,606
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser