chr3:41224646:C>T Detail (hg38) (CTNNB1, LOC126806658)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:41,266,137-41,266,137 View the variant detail on this assembly version. |
hg38 | chr3:41,224,646-41,224,646 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001904.3:c.134C>T | NP_001895.1:p.Ser45Phe |
NM_001098210.1:c.134C>T | NP_001091680.1:p.Ser45Phe | |
NM_001098209.1:c.134C>T | NP_001091679.1:p.Ser45Phe |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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colorectal neoplasms, hereditary nonpolyposis |
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MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
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Detail |
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2016-05-31 | no assertion criteria provided |
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Detail | |
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2015-07-14 | no assertion criteria provided | disease |
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Detail |
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2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
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Detail |
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2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
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Detail |
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2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
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Detail |
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2014-10-02 | no assertion criteria provided | melanoma |
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Detail |
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2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Adrenal cortex carcinoma |
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Detail |
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2016-05-01 | no assertion criteria provided | nephroblastoma |
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Detail |
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2020-10-30 | no assertion criteria provided | gallbladder cancer |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
Desmoid Fibromatosis | B |
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Positive | Somatic | 4 | 18832571 | Detail | |
Desmoid Fibromatosis | B |
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Poor Outcome | Somatic | 3 | 18832571 | Detail | |
Desmoid Fibromatosis | B |
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Positive | 4 | 22766794 | Detail | ||
Desmoid Fibromatosis | Meloxicam | C |
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Sensitivity/Response | Somatic | 2 | 24788118 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.283 | liver carcinoma | NA | CLINVAR | Detail | |
<0.001 | Fibromatosis, Aggressive | A role for the serine to phenylalanine substitution at codon 45 (the S45F mutati... | BeFree | 23913621 | Detail |
<0.001 | Fibromatosis, Aggressive | A role for the serine to phenylalanine substitution at codon 45 (the S45F mutati... | BeFree | 23913621 | Detail |
0.018 | Fibromatosis, Aggressive | CTNNB1 S45F mutation predicts poor efficacy of meloxicam treatment for desmoid t... | BeFree | 24788118 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless r... | CIViC Evidence | Detail |
Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless r... | CIViC Evidence | Detail |
In this study a collection of 254 sporadic desmoid tumors were analysed for presence of mutations in... | CIViC Evidence | Detail |
Of the 33 patients with desmoid fibromatosis treated with meloxicam, a COX-2 selective inhibitor, on... | CIViC Evidence | Detail |
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Disease | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Malignant melanoma of skin | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Melanoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Lung adenocarcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Adrenal cortex carcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Nephroblastoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Gallbladder cancer | ClinVar | Detail |
NA | DisGeNET | Detail |
A role for the serine to phenylalanine substitution at codon 45 (the S45F mutation) in the catenin (... | DisGeNET | Detail |
A role for the serine to phenylalanine substitution at codon 45 (the S45F mutation) in the catenin (... | DisGeNET | Detail |
CTNNB1 S45F mutation predicts poor efficacy of meloxicam treatment for desmoid tumors: a pilot study... | 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
- rs121913409 dbSNP
- Genome
- hg38
- Position
- chr3:41,224,646-41,224,646
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- S45F
- Transcript 1 (CIViC Variant)
- ENST00000349496.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1286
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