chr3:41224633:A>C Detail (hg38) (CTNNB1)

Information

Genome

Assembly Position
hg19 chr3:41,266,124-41,266,124 View the variant detail on this assembly version.
hg38 chr3:41,224,633-41,224,633

HGVS

Type Transcript Protein
RefSeq NM_001904.3:c.121A>C NP_001895.1:p.Thr41Pro
NM_001098210.1:c.121A>C NP_001091680.1:p.Thr41Pro
NM_001098209.1:c.121A>C NP_001091679.1:p.Thr41Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 COSM5688 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.247 hepatoblastoma NA CLINVAR Detail
0.120 Desmoid tumor caused by somatic mutation NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs121913412 dbSNP
Genome
hg38
Position
chr3:41,224,633-41,224,633
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Genome browser