chr3:41266136:TCT> Detail (hg19) (CTNNB1, LOC126806658)

Information

Genome

Assembly Position
hg19 chr3:41,266,136-41,266,138
hg38 chr3:41,224,645-41,224,647 

HGVS

Type Transcript Protein
RefSeq NM_001904.3:c.133_135delTCT NP_001895.1:p.Ser45del
NM_001098210.1:c.133_135delTCT NP_001091680.1:p.Ser45del
NM_001098209.1:c.133_135delTCT NP_001091679.1:p.Ser45del
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic; other
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 COSM33668 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided extrahepatic bile duct not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1997-03-21 no assertion criteria provided Carcinoma of colon somatic Detail
other 2016-05-01 no assertion criteria provided nephroblastoma somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.124 colon carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) AND Carcinoma of colon ClinVar Detail
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) AND Nephroblastoma 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
rs587776850 dbSNP
Genome
hg19
Position
chr3:41,266,136-41,266,138
Variant Type
snv
Reference Allele
TCT
Alternative Allele
-
Genome browser