chr3:41266125:C>T Detail (hg19) (CTNNB1, LOC126806658)

Information

Genome

Assembly Position
hg19 chr3:41,266,125-41,266,125
hg38 chr3:41,224,634-41,224,634 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001904.3:c.122C>T NP_001895.1:p.Thr41Ile
NM_001098210.1:c.122C>T NP_001091680.1:p.Thr41Ile
NM_001098209.1:c.122C>T NP_001091679.1:p.Thr41Ile
Summary

MGeND

Clinical significance not provided
Variant entry 8
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 COSM5676 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided body of stomach not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided liver cell carcinoma not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided liver cell carcinoma not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided extrahepatic bile duct not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided fundus of stomach not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided extrahepatic bile duct not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-04-01 no assertion criteria provided pilomatrixoma 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 neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided pancreatic adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Adrenal cortex carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma 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
Annotation

Annotations

DescrptionSourceLinks
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Pilomatrixoma ClinVar Detail
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Prostate adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Pancreatic adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Neoplasm of the large intestine ClinVar Detail
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Lung adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Adrenal cortex carcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Hepatocellular carcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Malignant melanoma of skin 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
rs121913413 dbSNP
Genome
hg19
Position
chr3:41,266,125-41,266,125
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser